2001 SBA RFA 2 Case 6 Miriam Liebling, a 37 year old woman, presents to the GP complaining of tiredness and lethargy. She has 3 children aged 9, 5 and 4 years. She is not vegetarian and eats a normal Western diet. She has had menorrhagia for the last year but has been too busy to seek medical help. Her haemoglobin is measured and the lab phones to say the Hb measures 64 g/L (NR 125-160g/L). 32. Erythropoiesis is stimulated principally by which one of the following? A) Reduced pulmonary venous oxygen tension B) Reduced oxygen tension in renal arterial blood C) Reduced firing of a chemoreceptor in the carotid arteries D) Reduced secretion of an inhibitory adrenocortical hormone Answer B Erythropoietin is secreted principally in response to hypoxia in arterial blood perfusing the kidneys Author: David Gottlieb, Haematology Curriculum Reference: 4.01 LT2 33. With respect to erythropoiesis, cellular iron is acquired from circulating: A) Cytochromes B) Erythropoietin C) Ferritin D) Transferrin Answer D Transferrin is the form in which iron is provided to cells. Activation of the transferrin receptor promotes iron uptake and erythropoiesis. Author: Arthur Conigrave, Biochemistry Curriculum Reference: 4.01 LT3 34. Which one of the following would be the best screening test for patients with iron deficiency? A) Serum iron B) Transferrin concentration C) Percentage transferrin saturation with iron D) Serum ferritin Answer D A low serum ferritin is both sensitive and specific for iron deficiency. All other tests are confounded by recent iron intake or the effects of chronic disease on iron metabolism. Author: David Gottlieb, Haematology Curriculum Reference: 4.01 LT5 35. Which one of the following is most helpful in indicating a likely cause for the reduced haemoglobin in a patient with anaemia? A) The severity of the anaemia B) The mean corpuscular volume (MCV) C) The presence of a normal platelet count D) The patient’s age
Answer B None of the other parameters significantly narrow the diagnostic possibilities in patients with anaemia. Author: D Gottlieb, Haematology Curriculum Reference: 4.01 Lecture 3 Case 7 Maria Dimitrious, a 9 month old girl, is brought into your general practice by her mother and grandmother. They have just immigrated to Australia from Greece. Maria presents with a one month history of poor feeding, failure to thrive and irritability. On examination her weight is on the 3rd percentile for age, she is pale, has marked hepatosplenomegaly and a hyperdynamic circulation. A full blood count reveals the following results: Indices Maria’s Results Normal range for this age Hb *45 g/L 95 – 140 g/L MCV *63 fl 70 – 85 fl Hematocrit *14% 28 – 45% WCC 16 x 109/L 5 – 17 x 109 /L Platelet Count 409 x 109/L 150 – 600 x109/L 36. If Maria has thalassemia major as you suspect, her blood film will show: A) Hypochromic red cells B) Macrocytic red cells C) Spherocytic red cells D) Hyperchromic red cells Answer A The blood film in thalassemia major shows hypochromic usually microcytic cells with marked anisocytosis (variation in size) and poikilocytosis (variation in shape) associated with the presence of nucleated red blood cells. Spherocytes are not a feature of thalassemia major. Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum references: 4.01 LT5, 4.02 Lect 1,4 37. Antenatal diagnosis of -thalassemia major is most commonly confirmed by: A) A full blood count on foetal blood B) Haemoglobin electrophoresis on foetal blood C) DNA molecular tests on a chorionic villus sample D) /globin synthesis ratios on chorionic villus sample Answer C Antenatal diagnosis of beta thalassemia major is most commonly confirmed by molecular techniques (eg RFLP analysis) on a CVS sample. Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum references: 4.02 Lect 4 38. Which of the following investigations should be performed to confirm a suspected diagnosis of thalassemia major in Maria? A) Polymerase chain reaction B) Haemoglobin electrophoresis
C) Restriction fragment length polymorphism analysis D) Karyotype analysis Answer B The diagnosis of thalassemia major is confirmed by haemoglobin electrophoresis. The polymerase chain reaction and restriction length polymorphism analysis may be used in the process of antenatal diagnosis but are not required to make the diagnosis of thalassemia major in a patient presenting in this manner. Karyotype analysis does not provide any useful information in the diagnosis of thalassemia major. Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum references: 4.02 Lect 1,4 39. In beta thalassemia major there is: A) Inadequate production of normal alpha chains B) Normal production of abnormal alpha chains C) Inadequate production of normal beta chains D) Normal production of abnormal beta chains Answer C In beta thalassemia major there is inadequate production of normal beta globin chains Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum references: 4.02 Lect 1,4 Case 8 Samuel Irvine, an 18 month old haemophiliac, presents with a right knee haemarthrosis to the Emergency Department of a district hospital. He has had a previous admission to the same hospital for the same problem. 40. In children, the clinical finding most suggestive of an inherited coagulation factor defect would be: A) Bruises on both shins from an unknown cause B) Bruises on his chest wall from lying on a toy C) Sudden onset of petechia D) Recurrent nose bleeds lasting for 1 minute Answer B Bruises on both shins are common in children and do not indicate a bleeding disorder, whereas bruises on the trunk are uncommon and often indicate a bleeding disorder. Sudden onset of petechiae is characteristic of ITP. Recurrent nose bleeds of short duration suggest a local problem eg, bleeding blood vessel. Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum Reference: 4.03 LT4 41. Which of the following screening tests is abnormal in patients with haemophilia A? A) Platelet count B) Activated Partial Thromboplastin Time (APTT) C) Prothrombin Time (PT) D) Thrombin Time (TT) Answer B
The deficiency of factor VIII causes prolongation of the APTT Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum references: 4.03 LT4 42. The factor VIII gene encodes a protein of approximately 2,300 amino acids. Given that the gene spans 186 kilobases of the X chromosome, it is accurate to say that the majority of the DNA in the factor VIII gene is organized into: A) Exons B) Introns C) Protein encoding regions D) RNA encoding regions Answer B 6,900 bases are required to specify a protein of this length. The gene is 20-30 times this size. Exons, protein-encoding regions and RNA-encoding regions are related terms. Author: Arthur Conigrave, Biochemistry Curriculum Reference: 4.03 LT6 43. Circulating Von Willebrand’s factor is a protein that influences coagulation by acting to: A) Degrade factor VIII by proteolysis B) Convert factor VIII to its active form C) Stabilize factor VIII in the circulation D) Cross-link factor VIII to its receptors Answer C Von Willebrand’s factor stabilises Factor 8 in the circulation. As a result, in Von Willebrand's disease, a secondary deficiency of factor VIII can arise. Author: Arthur Conigrave, Biochemistry Curriculum Reference: 4.03 LT3 44. In haemophilia: A) The molecular mutation is the same in all patients B) The family history is negative in over 50% of patients C) In families with informative RFLP analysis, intragenic markers are more accurate than extragenic markers D) The mother of a severe haemophiliac is unlikely to be a carrier if the family history is negative Answer C Over 150 mutations have been identified in the Factor VIII gene. Isolated cases representing new mutations occurring in a non carrier mother or in the grandparent generation are seen in around a third of patients with haemophilia. A mutation “hotspot” has been found in 25% of all haemophiliacs and results in severe disease. Nearly every mother of a sporadic severely affected patient with an inversion is likely to be a carrier. Because of the large number of mutations causing haemophilia A, in most cases indirect testing using linked DNA polymorphisms must be employed . RFLP analysis is informative in most cases, with a 2-6% error rate using extragenic markers and <1% for informative intragenic markers. Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum references: 4.03 LT6
Case 9 Michelle Yuen, a 26 year old woman, presented to the antenatal clinic at 28 weeks pregnancy. She had not previously sought antenatal care. She reported that she smokes 5 cigarettes daily and drinks 10-20 g alcohol daily. You noticed that she was pale and proceeded to do a full blood count and blood film. The results are given in the table below. Indices Ms Yuen’s Results Normal Range Hb *78 g/L 115 – 165 g/L MCV *102 fl 76 – 96 fl MCH 30 pg 27 – 32 pg WCC *1.8 x 109/L 4.0 – 11.0 x 109 /L Platelet Count *120 x 109/L 150 – 500 x109/L Investigation confirms folate deficiency with a normal B12 level. 45. Which one of the following disorders is never associated with pancytopenia? A) Folate deficiency B) Iron deficiency C) Vitamin B12 deficiency D) Aplastic anaemia Answer B Only iron deficiency is never associated with pancytopenia. Severe megaloblastic anaemia can be and aplastic anaemia is due to a stem cell disorder which frequently affects all cell lines. Author: David Gottlieb, Haematology Curriculum Reference: 4.04 46. Which one of the following statements best describes the biochemical abnormality underlying megaloblastic anaemia? A) Reduction in levels of folic acid or vitamin B12 impairs the ability of purine analogues to be converted to pyrimidines B) Absence of folic acid impairs the conversion of homocysteine to pyrimidines C) Folic acid and vitaminB12 deficiency combine to inhibit the enzyme dihydrofolate reductase and pyrimidine synthesis D) Low levels of folic acid or vitamin B12 impair one-carbon transfer important in the production of folate polyglutamates and generation of pyrimidines Answer D Folic acid and vitamin B12 co-operate in the transfer of a methyl group from methyl tetrahydrofolate to tetrahydrofolate (during which homocysteine is converted to methionine). Following this, tetrahydrofolate polyglutamate derivatives act as co-enzymes in the production of the pyrimidine thymidine. Author: David Gottlieb, Haematology Curriculum Reference: 4.01 Lecture 4 47. Red cell breakdown (haemolysis) is associated with which one of the following? A) Reduced level of lactate dehydrogenase B) Elevated serum haptoglobin levels C) Erythroid hyperplasia in the spleen
D) Erythroid hyperplasia in the bone marrow Answer D Lactate dehydrogenase levels are increased in haemolysis, whereas haptoglobin levels are decreased. Erythroid hyperplasia in the bone marrow occurs as a compensatory mechanism to increase red cell production. Author: David Gotlieb Curriculum Reference: 4.04 LT 4 48. A hematocrit of 14% means that, in the sample of blood analysed: A) 14% of the haemoglobin is in the plasma B) 14% of the total blood volume is blood plasma C) 14% of the total blood volume is the red cells D) 14% of the haemoglobin is in red cells Answer C The hematocrit is the percentage of the total blood volume occupied by red cells (or, more accurately, red and white cells). Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum Reference:4.01, Theme Session B&CS 1 (Laboratory skills - full blood count and coagulation),4.01, Theme Session B&CS 2 49. Which one of the following changes in the blood is rarely seen during pregnancy? A) Anaemia B) Neutrophilia C) Thrombocytopenia D) Reduced factor VIII level Answer D Levels of plasma coagulation factors including factor VIII frequently rise during and shortly after pregnancy contributing to the increased incidence of thrombosis observed during this period. Author: David Gottlieb, Haematology Curriculum Reference: 4.05 LT5 Case 10 Keith Harris, a 73 year old man, is brought to the Emergency Department by ambulance. During the night he noticed palpitations and shortness of breath which got steadily worse over several hours. There was no associated chest discomfort although he has had 3 documented myocardial infarcts over the last 5 years. More chronic problems include ankle swelling and excess alcohol ingestion. 55. The most characteristic pathological finding in a reperfused myocardial infarct, examined three weeks after the event is: A) Coagulative necrosis B) Collagen deposition C) Lymphocyte infiltration D) Contraction bands Answer B Author: Prof Clive Harper, Pathology
Curriculum Reference: 4.05, Theme Session 1 (Coronary artery disease) Case 12 Hannah Kovalenko is a 4 year old girl who is noted on routine medical examination to have a heart murmur. She is referred to a paediatric cardiologist who diagnoses a small ventricular septal defect. 68. Should Hannah be suffering bacterial endocarditis, the most likely causative agent would be: A) A species of oral streptococci B) Staphylococcus aureus C) Coagulase negative staphylococci D) A Gram-negative (enteric) rod Answer A Although almost any organism can cause endocarditis, the majority of cases are caused by a relatively small range of species. In Hannah’s case since she has her own heart valve as opposed to a prosthetic valve and she is not an i.v. drug user then the most likely causative agent is a species of oral streptococci e.g., Strep. sanguis Author: A/Prof. R. Kearney, Infectious diseases Curriculum reference: 4.03: Lect. 1 Rheumatic valve disease, 4.03: LT.6 Complications of rheumatic heart disease 2002 RFA2 2002 Case 7 Mr Frederick Worthington is a 49 year old company director. He comes into your surgery because he has developed some epigastric discomfort and nausea over the last few weeks. He has also noticed some shortness of breath and palpitations when walking up hills. On examination, he looks quite pale, and his pulse is 100. His blood pressure is 175/75. You cannot palpate an enlarged spleen, and there is no abdominal tenderness. You order a blood count, which shows: Indices Hb MCV MCH MCHC WCC Platelet count
Mr Worthington's Results 85 g/L 70 fL 22 pg 314 g/L 5.5 x 109/L 575 x 109/L
Normal Range 130-180 g/L 80-100 fL 27-32 300-350 g/L 4.0-11.0 xl09/L 150-400 x 10y/L
30. Given Mr Worthington's history, examination and findings, the most likely diagnosis is: A) Aplastic anaemia B) Pernicious anaemia C) Iron deficiency anaemia D) Auto-immune haemolytic anaemia Answer C Explanation: The history and physical findings are consistent with anaemia, and there is also a
suggestion of abdominal pathology. The blood film shows microcytosis and hypochromia, typical of iron deficiency, and the thrombocytosis suggests blood loss is the likely culprit. Pernicious anaemia is associated with a macrocytosis. Auto-immune haemolytic is associated with splenomegaly. Aplastic anaemia is characterised by pancytopenia. Reference: 4.01, Learning Topic 5 (Clinical and laboratory assessment of anaemia) 4.04,Learning Topic 1 (Microcytosis) Curator (for 2002): AlProf David Gottlieb (Department of Haematology, Westmead Hospital)
You ask Mr Worthington some more questions. 31. The question most relevant to your working diagnosis is: A) Has he noticed that he bruises easily? B) Does he have a family history of diabetes? C) Has he recently been taking chloramphenicol? D) Has he noticed blood in his bowel motions? Answer D Explanation: Easy bruising suggests thrombocytopenia, which he does not have. Chloramphenicol can cause aplastic anaemia, but not iron deficiency. Blood loss from the gastrointestinal tract is a common cause of iron deficiency anaemia, particularly in the context of epigastric pain and coexisting thrombocytosis. Reference: 4.03, Lecture 1 (Physiology of coagulation -platelet and clotting factors) 4.01, Learning Topic 3 (Consequences of deficiencies of essential haematinics) 4.01, Lecture 4 (Iron deficiency) Curator (for 2002): A/Prof David Gottlieb (Department of Haematology, Westmead Hospital) 32. You go back to the blood film and examine it closely. The most likely finding on the blood film of this patient is:
A) Hypochromic erythrocytes B) Macrocytic erythrocytes C) Spherocytic erythrocytes D) Fragmented erythrocytes Answer A Explanation: The red cells in iron deficiency are hypochromic (low MCH) as well as microcytic (low MCV), not macrocytic. Spherocytes are typically found in autoimmune haemolytic anaemia and hereditary spherocytosis. Fragmented red cells are seen in renal insufficiency, severe burns, and microangiopathic haemolytic anaemia, not in iron deficiency. Reference: 4.01, Learning Topic 5 (Clinical and laboratory assessment of anaemia 4.04, Theme Session B&CS 1 (Interpreting lab tests in anaemia) Curator (for 2002): A/Prof David Gottlieb (Department of Haematology, Westmead Hospital)
33. You decide to confirm your diagnosis with additional blood tests. The set of results you would expect to find is: A) Low serum iron, high serum transferrin, and low serum ferritin B) Low serum Bi2 level C) Low serum iron, low serum transferrin, and normal serum ferritin D) Reduced haptoglobin levels Answer A Explanation: The pattern described in A. is typical of iron deficiency anaemia. Low serum B12 is a cause of megaloblastic anaemia. Low serum iron, low serum transferrin and normal serum ferritin are found in the anaemia of chronic disease. Reduced haptoglobin levels are associated with haemolytic anaemias. Reference: 4.01, Lecture 1 (Introduction to anaemia) 4.01, Lecture 3 (Megaloblastic anaemia) 4.01, Learning Topic 5 (Clinical and laboratory assessment of anaemia) 4.05, Learning Topic 7 (Tests of iron status in anaemia) Curator (for 2002): A/Prof David Gottlieb (Department of Haematology, Westmead Hospital) 34. Transfer of oxygen from blood to tissues is: A) Increased by 2,3-diphosphoglycerate (2,3-DPG) B) Decreased by lowering the pH C) Enhanced by the presence of fetal haemoglobin (HbF) rather than adult haemoglobin (HbA) in red cells D) Increased by carbon monoxide Answer A Explanation: 2,3-DPG lowers the affinity of haemoglobin for oxygen, thereby facilitating oxygen delivery to the tissues. Acidosis (lower pH) lowers the affinity of haemoglobin for oxygen, resulting in a shift to the right of the haemoglobin oxygen dissociation curve. Fetal haemoglobin has a greater affinity for oxygen than does adult haemoglobin. Carbon monoxide binds avidly to haemoglobin and thereby displaces oxygen. Reference: 4.01, Lecture 2 (Role of haemoglobin in oxygen delivery to tissues) Curator (for 2002): A/Prof David Gottlieb (Department of Haematology, Westmead Hospital) 35. Red cell breakdown (haemolysis) is associated with: A) Reduced serum bilirubin B) Elevated serum haptoglobin levels C) Erythroid hyperplasia in the bone marrow D) Decreased erythropoietin levels Answer C Explanation: Bilirubin is increased in haemolysis, whereas haptoglobin levels are decreased. Erythroid hyperplasia occurs as a compensatory mechanism to increase red cell production.
Erythropoietin levels are increased in haemolytic anaemias. Reference: 4.01, Learning Topic 4 (Premature destruction of red blood cells) 4.04, Learning Topic 6 (Shortened red cell survival) Curator (for 2002): A/Prof David Gottlieb (Department of Haematology, Westmead Hospital) 36. In assessing a blood count, a haematocrit of 29% means that in the sample of blood analyzed: A) 29% of the haemoglobin is in the plasma B) 29% of the total blood volume is red cells C) 29% of the haemoglobin is in red cells D) 29% of the formed elements in blood are red blood cells Answer B Reference: 4.02, Theme Session (Interpreting lab tests in anaemia) Curator: Dr Julie Curtin (New Children's Hospital) Case 8 Ms Rosa Lipowski, aged 52, comes to see you. She has been unwell for 2 weeks, with bruising, recurrent epistaxis, and some vaginal spotting. There is no lymphadenopathy or hepatosplenomegaly. You arrange a full blood count, and the results are as follows: Hb 96 g/L (normal range 115-165 g/L) WCC 2.6 x 109/L (normal range 4.0-11.0 x 109/L) with 60% blasts, some with Auer rods Platelet count 41 x 109/L (normal range 150-400 x 109/L. A diagnosis of acute myeloblasts leukaemia is made. 37. The feature of greatest prognostic importance in patients with acute leukaemia is: A) White cell count at diagnosis B) Bone marrow cytogenetics C) Platelet count at diagnosis D) Physical fitness at diagnosis Answer B Explanation: Cytogenetics are now more important than the FAB classification in terms of prognostic significance. White cell count at diagnosis is prognostic but less important. The other parameters have no significant prognostic value. Reference: 4.02, Lecture 1 (Leukaemia -pathogenesis and pathophysiology) 4.02, Lecture 2 (Leukaemia — clinical patterns) 4.02, Lecture 4 (Leukaemia — bench to bedside) Curator: A/Prof David Gottlieb (Department of Haematology, Westmead Hospital) 38. In acute leukaemia: A) Blast cells are always present in the blood B) Blast cells are always present in the bone marrow C) The white cell count is always high D) Pancytopenia is always present
Answer B Explanation: At least 30% of nucleated marrow cells must be blast cells to qualify for a diagnosis of acute leukaemia. Blast cells may not be found in the peripheral blood. Patients may have normal blood counts or may be leucopenic. Reference: 4.02, Learning Topic 5 (Bone marrow failure and stem cell transplant) 4.02, Lecture 1 (Leukaemia -pathogenesis and pathophysiology) Curator: A/Prof David Gottlieb (Department of Haematology, Westmead Hospital) 39. The anaemia associated with acute myeloid leukaemia is predominantly due to: A) Haemolysis B) Blood loss C) Renal failure D) Erythroid hypoplasia Answer D Explanation: Cytopenia due to acute myeloid leukaemia is usually due to bone marrow infiltration with malignant cells, and hypoplasia of normal marrow elements. Haemolysis associated with acute myeloid leukaemia is rare and, while blood loss associated with thrombocytopenia is common, anaemia resulting from it is not. Most patients do not present with renal failure. Reference: 4.02, Learning Topic 2 (Leucocytes and their function) 4.02, Learning Topic 5 (Bone marrow failure and stem cell transplant) 4.02, Lecture 1 (Leukaemia -pathogenesis and pathophysiology) Curator: A/Prof David Gottlieb (Department of Haematology, Westmead Hospital) Case 9 Shane Dodds, a 17 year old Year 12 student, recently visited Papua New Guinea in the school holidays for 3 weeks during which time he spent 3 nights in a coastal village. He took chloroquine regularly while he was away, but has not taken any antimalarial prophylaxis since his return to Australia 2 weeks ago. He comes to your general practice surgery now having been unwell for 3 days, experiencing a rigor followed by drenching sweats each night. 40. In malaria: A) Daily fevers are unusual B) Recurrences of Plasmodium falciparum are due to failure to eradicate parasites from the liver C) A first attack of malaria may occur many months after exposure to infection D) The diagnosis cannot be made from the microscopic examination of a routinely stained blood film Answer C Explanation: In the initial stages of malaria infection daily fevers are common. Plasmodium vivax and P. ovale (but not P. falciparum), are associated with persistence in the liver, which requires eradication with specific therapy after the initial parasitaemia has been cleared. A first attack of
malaria may occur many months after exposure to infection. The diagnosis of malaria can frequently be made by examining a routinely stained peripheral blood film. Reference: 4.04, Learning Topic 3 (Fever) 4.04, Learning Topic 4 (Life cycle of malaria parasites) 4.04, Lecture 3 (Diagnosis of malaria) 4.04, Lecture 5 (Common parasitic diseases) Curator: Dr Julie Curtin (New Children's Hospital) 41. In malaria: A) Infection may be acquired by a blood transfusion B) Plasmodium vivax parasites may persist undetected in the circulation for 20 years or more C) Cerebral malaria is the most common cause of death in Plasmodium vivax infection A) The highest incidence of malarial infection in infants is in the first month of life Answer A Explanation: Malaria can be acquired by blood transfusion from an infected donor. Plasmodium malariae is the only plasmodial species which may persist in the circulation for decades. Cerebral malaria is a common cause of death in falciparum, not vivax infections. The new-born infant has relative protection from malaria through circulating maternal antibodies, but this protection is lost by 3 to 6 months of age. Reference: 4.04, Learning Topic 3 (Fever) 4.04, Learning Topic 4 (Life cycle of malaria parasites) 4.04, Lecture 3 (Diagnosis of malaria) 4.04, Lecture 5 (Common parasitic diseases) Curator: Dr Julie Curtin (New Children's Hospital Case 10 Mrs Campbell is a 78 year old grandmother who lives alone, is not eating properly and seems to have no energy. She has difficulty climbing stairs, and is breathless on minimal exertion. On examination she is pale, with a mild tachycardia of 105 beats per minute. She has mild pitting ankle oedema. The results of her full blood count are given below. Indices Mrs Campbell's Results Normal Range Haemoglobin 78g/L 115-160g/L MCV 106 fL 80 - 96 fL MCH 33 pg 27-32pg White cell count 3.8 x 109/L 4.0- 11.0 xl07L Platelets 153 x 109/L 150 - 450 x 107L 42. Which one of the following nutritional deficiencies is most likely? A) Iron B) Magnesium C) Thiamine D) Folate Answer D Curator: A/Prof David Gottlieb (Department of Haematology, Westmead Hospital) 43. With respect to Vitamin Bu and folic acid metabolism, which one of the following statements is correct? A) Vitamin Bi2 stores last longer than folic acid stores
B) Vitamin Bi2 is absorbed in the upper small bowel C) Folic acid requires a gastric co-factor for absorption D) Vitamin B12 contains an atom of copper Answer A Curator: A/Prof David Gottlieb (Department of Haematology, Westmead Hospital) RFA2 SBA 2003 Case 7 Mrs Sarah van Hilst is a 39 year old clerk (three days per week) and also provides most of the care of her four children (her husband works full-time and also spends three hours per day travelling to and from work). Over the past 3 months, she has become increasingly tired and has also noticed some shortness of breath and palpitations when walking up hills. She has experienced some difficulty in swallowing - "food seems to stick in the throat" - in the past 6 to 8 weeks. Mrs van Hilst's periods have always been "heavy", lasting 5 to 6 days every 28 days. On examination, she looks quite pale, and her pulse is 100/minute, sinus rhythm. Her blood pressure is 175/75 mm Hg. There is no abdominal tenderness or splenomegaly. Her fingernails are spoon-shaped. You order a blood count, and the results are given below. Indices Hb MCV MCH MCHC WCC Platelet count
Mrs van Hilst's Results 85g/L 69 fl 22 pg 31.9 g/dL 7.3 x 10y/L 380 x 10y/L
Normal Range 115-160g/L 80 - 96 fL 27 - 32 pg 32 - 36 g/dL 4.0-11.0 xlOy/L 150-450xl09/L
33. Given Mrs van Hilst's history, examination and findings, the most likely diagnosis is: A) Aplastic anaemia B) Pernicious anaemia C) Iron deficiency anaemia D) Auto-immune haemolytic anaemia Answer C Curriculum Reference: 4.01 Lecture 4: Iron deficiency Curator: A/Prof David Gottlieb (Haematology) 34. You go back to the blood film and examine it closely. The mostlikely finding is: A) Hypochromic microcytic erythrocytes B) Hypochromic macrocytic erythrocytes C) Hyperchromic microcytic erythrocytes D) Hypochromic spherocytic erythrocytes Answer A
Curriculum Reference: 4.01 Lecture 4: Iron deficiency 35. You decide to confirm your diagnosis with additional blood tests. If iron deficiency is present, the set of results you would expect to find is: A) Low serum iron, high serum transferrin, and low serum ferritin B) Low serum iron, normal serum transferrin, and low serum ferritin C) Low serum iron, high serum transferrin, and normal serum ferritin D) Low serum iron, low serum transferrin, and high serum ferritin Answer A Curriculum Reference: 4.01 Lecture 4: Iron deficiency Curator: A/Prof David Gottlieb (Haematology) 36. Iron absorption from food is facilitated by: A) Iron being present as an organic compound B) Iron being present in the form of ferrous (Fe2+) iron C) Iron being present in the form of ferric (Fe3+) iron D) Eating food derived from cereals such as wheat Answer B Curriculum Reference: 4.01 Lecture 4: Iron deficiency Curator: A/Prof David Gottlieb (Haematology) 37. The largest amount of iron in the body is contained in: A) Ferritin B) Transferrin C) Haemosiderin D) Haemoglobin Answer D Curriculum Reference: 4.01 Lecture 4: Iron deficiency Curator: A/Prof David Gottlieb (Haematology) 38. Erythrocytes in a person with iron deficiency are microcytic - i.e., smaller than normal - because of: A) Loss of intracellular water B) Reduced intracellular haemoglobin concentration C) An additional mitotic division during erythropoiesis
D) Impaired oxygen carrying ability Answer C Curriculum Reference: 4.04 Learning topicl: Microcytosis Curator: A/Prof David Gottlieb (Haematology) 39. When red cells reach the end of their life and are eliminated, the iron that they contain is: A) Excreted in the urine B) Excreted in the bile C) Taken up by macrophages D) Taken up by liver cells Answer C Curriculum Reference: 4.01 Lecture 4: Iron deficiency Curator: A/Prof David Gottlieb (Haematology) Case 8 Lily Klein is a 72 year old woman who presents for medical assessment prior to admission for hip replacement. Her clinical examination reveals a 2 cm anterior cervical lymph node but no other lymphadenopathy or hepatosplenomegaly. She is noted on full blood count to have a white cell count of 25 x 109/L (reference range 4 - 11 x 109/L) with predominant lymphocytosis of 19.8 x 109/L (reference range 1.5 - 4.0 x 109/L), but normal haemoglobin and platelets. The blood film comment states: consistent with chronic lymphocytic leukaemia. 41. Regarding T-lymphocytes, which one of the following is NOT correct? They: A) Secrete antibodies into the circulating blood B) Interact with macrophages by secreting interleukins C) Attack virus-infected cells by releasing perforin D) Attack transplanted cells displaying non-self antigens Answer A Curriculum reference: 4.02 LT2 Author: L. Cottee, Physiology 43. With respect to chronic myeloid leukaemia (CML) and / or chronic lymphocytic leukaemia (CLL) which one of the following is correct? A) CML typically exhibits a characteristic chromosomal translocation B) CLL patients have no increase in bacterial infections C) CLL can always be distinguished from lymphomas by examination of blood films D) In patients with CLL the incidence of carcinomas of skin and lung is not increased
Answer A Curriculum reference: 4.02 Lecture 2 Curator: A/Prof David Gottlieb (Haematology) Case 9 Ms Malini Mokashi is a 30 year old woman who is admitted to hospital with multiple trauma following a motor vehicle accident. She has a previous history of blood transfusion following a postpartum haemorrhage 5 years ago. There has been considerable blood loss and she is found to be hypotensive and tachycardic in the Emergency Department. A sample for grouping and crossmatching is sent to the laboratory with an urgent request for 6 units of blood. 45. Blood grouping is performed and Ms Mokashi is found to be group O Rh(D) negative. An antibody screen is negative. Which one of the following statements regarding provision of blood for the patient is correct? A) A further full crossmatch is required against the selected units to be transfused before blood can be issued B) Whole blood should be used in preference to packed cells C) Group-specific blood can be issued without further testing D) If group O Rh(D) negative blood is not immediately available, O Rh(D) positive blood should not be given Answer C Curriculum Reference: 4.01BCS Theme Session 2: Laboratory skills: group, X-match. 4.03 Lecture 4: (Blood products in the treatment of disease) Curator: A/Prof David Gottlieb (Haematology)
Over the course of the next 24 hours, Ms Mokashi is given 20 units of blood before surgical stabilisation of injuries is achieved. It is noted that there is continuing oozing from wound sites and cannula punctures. 46. The most likely cause for this is: A) Dilution of clotting factors and platelets B) Liver failure as a result of injury and hypotension C) Disseminated intravascular coagulation D) Excessive amounts of citrate anticoagulant in transfused blood Answer A Curriculum Reference: 4.03 Lecture 4 (Blood products in the treatment of disease) Curator: A/Prof David Gottlieb (Haematology)
47. Which one of the following products is most appropriate for replacing coagulation factors? A) Platelet concentrates B) Whole blood C) Fresh frozen plasma D) Cryoprecipitate Answer C Curriculum Reference: 4.03 Learning Topic 8: Acquired disorders of clotting factors. Curator: A/Prof David Gottlieb (Haematology) 52. In P-thalassaemia major there is: A) Inadequate production of normal alpha chains B) Normal production of abnormal alpha chains C) Inadequate production of normal beta chains D) Normal production of abnormal beta chains Answer C Curriculum references: 4.02 Lect 1,4 Curator: A/Prof David Gottlieb (Haematology) 53. Antenatal diagnosis of P-thalassaemia major is most commonly made by performing: A) A full blood count on fetal blood B) Haemoglobin electrophoresis on fetal blood C) DNA molecular techniques on a chorionic villus sample D) a/p globin synthesis ratios on chorionic villus sample Answer C Curriculum reference: 4.04 Lecture 4 Curator: A/Prof David Gottlieb (Haematology) Case 10 Alexa Dimitriou, a 9 month old girl, is brought into your general practice by her mother and grandmother. They have just migrated to Australia from Greece. She presents with a one month history of poor feeding, failure to thrive and irritability. On examination her weight is on the 3rd percentile for age, she is pale, has marked hepatosplenomegaly and a hyperdynamic circulation. Full blood count findings include: Hb 45 g/L (normal range for this age 95 - 140 g/L) MCV 68fl (normal range for this age 70 - 85 fl) You consider a diagnosis of thalassaemia. 50. In chronic anaemia:
A) The cardiac output is reduced B) The symptoms will be greater than in acute anaemia C) Red cell 2,3-diphosphoglycerate is increased D) The heart rate is decreased Answer C Curriculum references: 4.05 LT7, 4.01 LT5, 4.02 BCS1 Curator: A/Prof David Gottlieb (Haematology) 51. If Alexa has thalassaemia major as you suspect, her blood film will show: A) Hypochromic red cells B) Macrocytic red cells C) Spherocytic red cells D) Hyperchromic red cells Answer A Curriculum references: 4.01 LT5, 4.02 Lect 1,4 Curator: A/Prof David Gottlieb (Haematology) Case 13 Marianne Issa is a 4 year old girl who is noted on routine medical examination to have a heart murmur. She is referred to a paediatric cardiologist who diagnoses a small ventricular septal defect. 66. Should Marianne be suffering bacterial endocarditis, the most likely causative agent is: A) A species of oral streptococci B) Staphylococcus aureus C) Coagulase negative staphylococci D) A Gram-negative (enteric) rod Answer A Curriculum reference: 4.03Lec 1 .-Rheumatic valve disease; LT.6 Complications of rheumatic heart disease Author: A/Prof R. Kearney, Infectious diseases RFA2 SBA 2004 Case 10 Max Friedrichs is an alert three year old boy who has been recently diagnosed with haemophilia A. 46. A diagnosis of haemophilia A is suggested by: 1 A) A reduced factor IX level 2 B) A factor XIII level of <10% 3 C) Reduced levels of von Willebrand factor 4 D) A long activated partial thromboplastin time (APTT)
Answer D PBL Reference: 4.03, LT1,:LT2, LT3, Lec 1 47. The replacement product of choice for a newly-diagnosed boy with Haemophilia A is: 1 A) Recombinant factor VIII 2 B) Cryoprecipitate 3 C) AHF (anti-haemophilia factor) 4 D) Fresh frozen plasma Answer A PBL Reference: 4.03, Lec3, Lec 4 48. The prothrombin time (PT) is prolonged in association with: 1 A) Blood transfusion 2 B) Heparin therapy 3 C) Severe thrombocytopenia 4 D) Warfarin therapy Answer D PBL Reference: 4.03, LT8, Lec 1 49. In the coagulation cascade, which of the following factors, when activated, cleaves prothrombin to thrombin? 1 A) Factor XI 2 B) Factor X 3 C) Factor IX 4 D) Factor VIII Answer B Activated factor X, which is generated from either pathway, activates prothrombin to thrombin, which in turn leads to conversion of fibrinogen to fibrin which serves to stabilize the platelet plug. Curriculum References: 4.03 LT1 50. A female carrier for classical haemophilia marries a close relative with classical haemophilia. The risk of a female infant being affected with haemophilia is: 1 A) 1.0 2 B) 0.5 3 C) 0.25 4 D) zero Answer B Female offspring will either be X*X* (haemophiliac) or X*X (carrier). The phenotype will depend upon the nature of the factor VIII mutation but defective function of factor VIII is likely given that X*Y has induced haemophilia in the father. Curriculum reference: 4.03 LT6 Genetics of haemophilia
51. Non-steroidal drugs, such as aspirin, reduce platelet aggregation because they: 1 A) Inhibit megakaryocyte formation in bone marrow 2 B) Cause immune thrombocytopenic purpura 3 C) Block GPIIIa receptors on platelets 4 D) Inhibit the formation of thromboxane A2 in the platelets Answer D Curriculum reference: 4.03 LT7 Platelet dysfunction Case 11 Lazika Merken, a ten month old girl, is brought into your general practice by her parents. The family have just migrated to Australia from east coast of Turkey. Lazika has a six week history of poor feeding. On examination her weight is on the 3rd percentile for age, she is pale, has marked hepatosplenomegaly and a hyperdynamic circulation. Full blood count findings include: Hb 47 g/L (normal range for this age 95 - 140 g/L) MCV 68fl (normal range for this age 70 - 85 fl) 52. If Lazika has thalassaemia major, her blood film will show: 1 A) Macrocytic red cells 2 B) Spherocytic red cells 3 C) Hypochromic red cells 4 D) Hyperchromic red cells Answer C Curriculum references: 4.01 LT5, 4.02 Lect 1,4 53. In β-thalassaemia major there is: 1 A) Normal production of abnormal beta chains 2 B) Inadequate production of normal beta chains 3 C) Inadequate production of normal alpha chains 4 D) Normal production of abnormal alpha chains Answer B Curriculum references: 4.02 Lect 1,4 54. Antenatal diagnosis of β-thalassaemia major is most commonly made by performing: 1 A) A full blood count on fetal blood 2 B) Haemoglobin electrophoresis on fetal blood 3 C) α/β globin synthesis ratios on a chorionic villus sample 4 D) DNA molecular techniques on a chorionic villus sample Answer D Curriculum reference: 4.04 Lect 4
Case 12 Howard Johnson is a 75 year old man who attends your general practice usually only for his annual influenza vaccination. Today he complains of a cough and runny nose over the last few days. He is afebrile and auscultation of his chest is normal. On further examination you notice pronounced enlargement of lymph nodes over all of his body. The full blood count reveals a total white cell count of 92.0 x 109/L, containing predominantly lymphocytes. 55. What is the most likely underlying diagnosis in this man? 1 A) Influenza 2 B) Non-Hodgkin’s lymphoma 3 C) Infectious mononucleosis 4 D) Chronic lymphocytic leukemia Answer D PBL reference: 4.04 Lecture 2 (Introduction to lympho-proliferative disease) 56. Which one of the following is NOT generally associated with lymphadenopathy? 1 A) Myelofibrosis 2 B) Sarcoidosis 3 C) Tuberculosis 4 D) Epstein Barr virus Answer A PBL reference: 4.04 Learning Topic 1 (Lymphadenopathy) 57. In normal lymph nodes: 1 A) Immunoglobulin genes can mutate following antigenic stimulation 2 B) Germinal centres contain predominantly plasma cells 3 C) Follicles contain predominantly T cells 4 D) Parafollicular zones contain predominantly B cells. Answer A PBL reference: 4.04 Lecture 2 (Introduction to lympho-proliferative disease) One year after diagnosis, Mr Johnson returns with symptoms of lethargy, palpitations and dyspnoea on exertion. He has noted dark urine for one week. Blood tests show the following: Haemoglobin 70 g/L (normal range: 130 – 182 g/L) MCV 92 fL (normal range: 80 – 96 fL) MCH 31.2 pg (normal range: 27 – 32 pg) White cell count 120 x 109/L (normal range:4.0 – 11.0 x 109/L) Differential: Neutrophils 10 x 109/L, lymphocytes 108 x 109/L and monocytes 2 x 109/L Platelets 545 x 109/L (normal range: 150 – 450 x 109/L) ESR 68 mm/hour Direct Antiglobulin Test - Strongly positive
58. What is the best interpretation of these results? 1 A) Anaemia of chronic disease 2 B) Iron deficiency anaemia 3 C) Hereditary spherocytosis 4 D) Autoimmune haemolytic anaemia Answer D PBL reference: 4.01 Learning Topic 4 (Premature destruction of red cells); 4.04 Learning Topic 3 (Autoimmunity causing haematological disorders) 59. In chronic anaemia: 1 A) Red cell 2,3-diphosphoglycerate is increased 2 B) The heart rate is decreased 3 C) The cardiac output is reduced 4 D) The symptoms will be greater than in acute anaemia Answer A Curriculum references: 4.05 LT7, 4.01 LT5, 4.02 BCS1 60. The therapeutic option of most likely benefit would be: 1 A) Plasmapheresis 2 B) Corticosteroid therapy 3 C) Intravenous iron 4 D) Folic acid supplementation Answer B PBL reference: 4.01 Learning Topic 4 (Premature destruction of red cells); 4.04 Lecture 2 (Introduction to lympho-proliferative disease) Mr Johnson’s condition deteriorated, with increasing left upper quadrant pain, and a falling haemoglobin level. A CT scan was performed which showed splenic rupture with intra-abdominal haemorrhage. A splenectomy was perfomed. 61. Which one of the following statements is correct with respect to splenectomy? 1 A) Post-splenectomy patients are susceptible to infection by unencapsulated bacteria 2 B) An increase in blood leucocytes can occur after a splenectomy 3 C) Post-splenectomy patients have increased resistance to malaria 4 D) Portal hypertension can occur as a complication of splenectomy Answer B PBL reference: 4.02 Lecture 3 (Diagnosis of malaria); 4.04 Learning Topic 4 (Immunodeficiency and common opportunistic infections) Case 14 Mary Takatis is a 83 year old woman who presents to the Emergency Department with acute onset of breathlessness due to pulmonary oedema. 12 lead ECG is normal apart from a sinus tachycardia. A diagnosis of heart failure is made.
68. Which one of the following factors will increase the likelihood of tissue oedema occurring? 1 A) An increase in total peripheral resistance 2 B) An increase in peripheral venous pressure 3 C) An increase in plasma protein concentration 4 D) An increase in cardiac output Answer B An increase in peripheral venous pressure will result in an increase in capillary hydrostatic pressure, favouring filtration. An increase in total peripheral resistance tends to decrease pressure in the capillaries, favouring reabsorption. An increase in plasma protein concentration also favours reabsorption. Ref: 4.03 Oedema (Learning topic) RFA2 SBA 2005 Case 10 John O’Sullivan, a 65 year old man, presented to his GP with several lumps under both axillae. He said that he has felt more lethargic in the last 18 months. Although previously very well, he has experienced several episodes of severe upper respiratory tract infections in the last 6 months. On examination, he had generalized lymphadenopathy in the cervical, axillary and inguinal regions, and splenomegaly of 5 cm below the costal margin. The blood film showed a lymphocytosis with smudge cells. Results of a Full Blood Count are given in the table below. Indices Haemoglobin White cells Neutrophils Lymphocytes Platelets
Mr O’Sullivan’s results 100 g/L 73 x 109/L 2.5 x 109/L 70 x 109/L 73 x 109/L
Normal range 130 – 180 g/L 4.0 – 11 x 109/L 2.0 – 7.5 x 109/L 1.5 – 4.0 x 109/L 150 – 400 x 109/L
50. With respect to splenomegaly, which one of the following is correct? A) B) C) D)
Increased red cell destruction contributes to the associated anaemia Massive enlargement is indicative of malignant disease Pancytopenia is invariably present Red cell inclusions (Howell-Jolly bodies) are frequently seen in peripheral blood films
Answer A Explanation:Accelerated red cell destruction is the major mechanism responsible for the anaemia of splenomegaly. Pooling of red cells in the red pulp of the spleen and expansion of plasma volume producing a dilutional component, are additional mechanisms. Massive splenic enlargement occurs in a number of haematological malignancies, but also in some parasitic diseases (including malaria), in congestive splenomegaly resulting from portal hypertension, and in some storage
diseases (eg Gaucher’s disease). In splenomegaly there may be a reduction in the number of circulating red cells, leucocytes or platelets, alone or in any combination. Pancytopenia is not invariable. Howell-Jolly bodies are seen after splenectomy and in hyposplenism, not in splenomegaly. PBL Reference: 4.04 L T 2 Splenomegaly 51. The most likely cause of the enlarged spleen in Mr O’Sullivan is: A) B) C) D)
Infiltration by neutrophils Recurrent upper respiratory tract infections Infiltration by platelets Infiltration by lymphocytes
Answer D Curriculum reference: 4.04 L T 2 Splenomegaly 52. The most likely cause of Mr O’Sullivan’s anaemia is: A) B) C) D)
Bone marrow infiltration Haemolysis Iron deficiency Myelodysplasia
Answer A Explanation; Marrow infiltration by lymphocytes replaces the normal cellular elements, including erythroblasts. Autoimmune haemolysis can occur in CLL, but is less common. CLl does not directly cause iron deficiency and does not arise from myelodysplasia PBL Reference:4.02, Lec 2 Leukemia; LT1 Lymphadenopathy 53. Which one of the following is most likely to contribute to his recurrent infections? A) B) C) D)
Tonsillar atrophy Hypogammaglobulinaemia Hyperviscosity caused by the lymphocytosis Neutropenia
Answer B The abnormal lymphocyte population in CLL leads to a generalised deficiency of gamma globulins, which is an important risk factor for recurrent bacterial infections, particularly of the respiratory tract. Lymphocytes, being small, do not cause hyperviscosity until the counts are extremely high (>300). The patient’s current neutrophil count is within normal limits. PBL Reference: 4.02, LT7 Immunodeficiency and common opportunistic infections
Case 11 Oliver Lee is a 5 year old boy who has been brought in by his parents who thought he was often listless and tired. The family is of South-East Asian origin. You are the family doctor. You think Oliver looks pale and you perform a series of blood tests. The blood film showed hypochromic microcytosis, with target cells, tear drop poikilocytes and basophilic stippling. You think thalassaemia is possible. The following results were found: HbA2 HbF HbEPG HbH bodies
3.5 % (normal range 1.5 - 3.5%) 96.5 % (normal range < 1%) no abnormal bands not detected
54. Which of the following is correct concerning haemoglobin? A) B) C) D)
It features an oxygen binding, copper-chelated porphyrin-ring functional group It is composed of several globin molecules each containing a single haem moiety It may be formed by co-existing beta and delta chains Has increased affinity for oxygen in the presence of 2,3-diphosphoglycerate (DPG)
Answer B Haem is an iron-chelated porphyrin ring structure; 2,3-DPG decreases oxygen binding thereby releasing oxygen into the tissues. 56. HbF: A) B) C) D)
Is made up of 22 tetramers Has a higher oxygen affinity than adult haemoglobin Forms the major fraction of total haemoglobin during late infancy Is the only haemoglobin present in the first two trimesters of gestation
Answer B HbF (22) has a higher oxygen affinity than maternal haemoglobin which facilitates the transfer of oxygen from the mother to the fetus. At birth HbF represents 70 – 90% of total haemoglobin, by 6 months it represents only 5%, it gradually reduces to the adult level of <1% during childhood. Other haemoglobins are present during the first two trimesters including Gower1, Gower 2 and very small amounts of adult haemoglobin (HbA). Reference: 4.04 LT6 Structure of normal haemoglobins; LT7 Abnormalities of haemoglobin genes 57. The basic defect seen in patients with -thalassaemia major is: A)
Excess production of a structurally normal -globin chain
B) C) D)
Excess production of a structurally abnormal -globin chain Normal production of a structurally abnormal -globin chain Inadequate production of a structurally normal -globin chain
Answer D -thalassaemia major is due to a reduced rate of production of structurally normal -globin Reference: 4.04, LT 5 Shortened red cell survival; LT6 Structure of normal haemoglobins; LT7 Abnormalities of haemoglobin genes 58. Antenatal diagnosis of -thalassaemia major is most commonly made by performing: A) B) C) D)
A full blood count on fetal blood Haemoglobin electrophoresis on fetal blood DNA molecular techniques on a chorionic villus sample / globin synthesis ratios on chorionic villus sample
Answer C Curriculum reference: 4.04 Lecture 4 Prenatal diagnosis of thalassaemia Case 12 During her first pregnancy 3 months ago, Melissa Simms, a 25 year old woman, suffered an intrauterine death at a gestation of 28 weeks. Her periods have not yet restarted. She is seen by her general practitioner 3 weeks after discharge from hospital, complaining of fatigue and exertional breathlessness. Blood tests were performed, and were consistent with a diagnosis of iron deficiency anaemia. 59. Which one of the following is characteristic of pregnancy? A) B) C) D)
The placenta produces inhibitors of maternal red cell production There is reduction in the circulating fibrinogen level There is decreased folate absorption There is a substantial increase in iron requirements
Answer D A. False: The placenta does not produce inhibitors of maternal red cell production. B. False: The fibrinogen level, as well as those of several other coagulation factors, rises in pregnancy, leading to a thrombotic tendency. C. False: Folate absorption increases in pregnancy. D. True: The major causes of anaemia in pregnancy are dilutional. An additional 800-1000 mg iron is required to meet the demands of pregnancy, 1/3 for the fetal-placental unit, and 2/3 for the increased red cell mass. Curriculum Reference: 4.05 LT5 Hormonal effects on blood
Ms Simms' menstrual cycles began at age 13 years, with regular cycles of 28 days, but up to 7 days bleeding, with heavy flows for the first 3 days, and with some dysmenorrhoea. Oral contraceptives have been used in the past to control these problems. She is otherwise well, has no other significant medical or surgical history, and has no gastrointestinal symptoms. There is no family history of anaemia or other blood disorders. 60. Which one of the following statements summarizes the most likely cause of this patient’s anaemia? A) B) C)
Iron deficiency due to heavy periods Poor dietary intake of iron, especially since the induced labour Recent post-partum bleeding, together with pre-existing iron deficiency and increased demand for iron during pregnancy D) Failure to take folate supplements during the pregnancy. Answer C A. False: The cause of the anaemia is most likely to be multi-factorial. Iron deficiency due to heavy periods is possible, as she required the OC pill to control menorrhagia. However other factors are also contributory. B. False: No information is given to suggest that her diet has been poor in iron since the miscarriage, and in any case the cause of the anaemia is most likely to be multi-factorial. C. True: In addition to possible pre-existing iron deficiency, she suffered a post-partum haemorrhage, and the pregnancy itself would have increased her requirements for iron. D. False: Folate deficiency would result in a macrocytic anaemia, whereas this woman has the characteristic microcytic hypochromic anaemia associated with iron deficiency. Curriculum reference: 4.01 Lect 4 Iron deficiency; 4.05 LT5 Hormonal effects on blood 61. Which one of the following series of results is consistent with iron deficiency? A) B) C) D)
Elevated serum ferritin, reduced serum iron, and normal serum transferrin Normal serum ferritin, reduced serum iron, and reduced total iron binding capacity Reduced serum ferritin, elevated serum transferrin, and absent stainable marrow iron Elevated serum ferritin, normal iron saturation, and stainable marrow iron
Answer C A. False: This pattern suggests anaemia of chronic disease. B. False: This pattern suggests anaemia of chronic disease. C. True: This combination is typical of iron deficiency. D. False: Ferritin is an acute phase reactant and therefore the serum ferritin may be spuriously elevated in other conditions such as infection, inflammation and neoplasia. Curriculum reference: 4.05 LT7 Tests of iron status in anaemia. 62. Which one of the following statements is correct?
A) B) C) D)
Re-utilization of iron from phagocytosed red cells prevents iron deficiency The majority of absorbed iron is utilized by myoglobin Iron balance is primarily controlled by the rate of iron excretion in men Vitamin C reduces iron absorption when iron is in the ferrous form
Answer A A. True: The daily requirements of iron exceed the amount that is absorbed B. False: The majority of absorbed iron is utilized by haemoglobin. C. False: Iron absorption is the primary mechanism controlling iron balance. D. False: Vitamin C enhances iron absorption by converting iron from ferric to ferrous. Curriculum reference: 4.05 LT6 Iron metabolism 63. Which one of the following proteins is the major carrier of iron in blood? A) B) C) D)
Albumin Ferritin Transcobalamin Transferrin
Answer D Curriculum reference: 4.01 LT3 Consequences of deficiency RFA3SBA2001 Case 6 Alexa Dimitriou, a 9 month old girl, is brought into your general practice by her mother and grandmother. They have just migrated to Australia from Greece. She presents with a one month history of poor feeding, failure to thrive and irritability. On examination her weight is on the 3rd percentile for age, she is pale, has marked hepatosplenomegaly and a hyperdynamic circulation. Full blood count findings include: Hb 45 g/L (normal range for this age 95 - 140 g/L) MCV 68fl (normal range for this age 70 - 85 fl) You consider a diagnosis of thalassaemia. 32. With respect to the liver, which one of the following statements is correct? A) The left and right anatomical lobes are demarcated on the basis of their blood supply B) The hepatic vein drains to the porta hepatis C) The ligamentum teres connects the liver to the umbilicus D) The normal adult liver lies entirely under cover of the lower thoracic cage Answer C The right and left functional lobes are demarcated on the basis of their blood supply. The anatomical lobes are demarcated by the falciform ligament anteriorly and the fissures for ligamentum venosum and teres posteriorly. The portal vein drains to the porta hepatis, while the hepatic vein drains to the
inferior vena cava. The liver is not covered by the thoracic cage in the midline, where it lies deep to muscles of the anterior abdominal wall. Author: D Bryce, Anatomy Curriculum reference: 7.11 Learning topic, 7.08 Theme session notes 33. In chronic anaemia: A) The cardiac output is reduced B) The symptoms will be greater than in acute anaemia C) Red cell 2,3-diphosphoglycerate is increased D) The heart rate is decreased Answer C In chronic anaemia the compensatory mechanisms include an increased cardiac output, increase heart rate, a shift in the oxygen dissociation curve so that more oxygen is released to the tissues. This shift in the oxygen dissociation curve is due to an increase in the amount of 2.3DPG in the red cells. Because of these compensatory mechanisms, chronic anaemia even of a severe degree is surprisingly well tolerated. Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum references: 4.05 LT7, 4.01 LT5, 4.02 BCS1 34. If Alexa has thalassaemia major as you suspect, her blood film will show: A) Hypochromic red cells B) Macrocytic red cells C) Spherocytic red cells D) Hyperchromic red cells Answer A The blood film in thalassaemia major shows hypochromic usually microcytic cells with marked anisocytosis (variation in size) and poikilocytosis (variation in shape) associated with the presence of nucleated red blood cells. Spherocytes are not a feature of thalassaemia major and are typically seen in hereditary spherocytosis and immune haemolytic anaemia. Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum references: 4.01 LT5, 4.02 Lect 1,4 35. In b-thalassaemia major there is: A) Inadequate production of normal alpha chains B) Normal production of abnormal alpha chains C) Inadequate production of normal beta chains D) Normal production of abnormal beta chains Answer C In beta thalassaemia major there is inadequate production of normal beta globin chains
Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum references: 4.02 Lect 1,4 36. Antenatal diagnosis of b-thalassaemia major is most commonly made by performing: A) A full blood count on fetal blood B) Haemoglobin electrophoresis on fetal blood C) DNA molecular techniques on a chorionic villus sample D) a/b globin synthesis ratios on chorionic villus sample Answer C Antenatal diagnosis of beta thalassaemia major is most commonly performed by molecular techniques (eg RFLP analysis) on a CVS sample. Author: Julie Curtin Dept of Haematology, Children’s Hospital at Westmead. Curriculum reference: 4.04 Lect 4 Case 7 Lily Klein is a 72 year old woman who presents for medical assessment prior to admission for hip replacement. Her clinical examination reveals a 2 cm anterior cervical lymph node but no other lymphadenopathy or hepatosplenomegaly. She is noted on full blood count to have a white cell count of 25 x 109/L (reference range 4 - 11 x 109/L) with predominant lymphocytosis of 19.8 x 109/L (reference range 1.5 - 4.0 x 109/L), but normal haemoglobin and platelets. The blood film comment states: consistent with chronic lymphocytic leukaemia. 37. Regarding T-lymphocytes, which one of the following is NOT correct? They: A) Secrete antibodies into the circulating blood B) Interact with macrophages by secreting interleukins C) Attack virus-infected cells by releasing perforin D) Attack transplanted cells displaying non-self antigens Answer A Author: L. Cottee, Physiology Curriculum reference: 4.02 LT2 38. The thoracic duct: A) Is located in the posterior mediastinum B) Normally drains into the azygos vein C) Passes through the diaphragm with the inferior vena cava D) Drains directly into the spleen Answer A The thoracic duct conveys most lymph of the body to the venous system. It ascends from the cisterna chyli through the aortic hiatus in the diaphragm, ascends in the posterior mediastinum on the bodies of the thoracic vertebrae. It empties into the venous system near the union of the left internal jugular and subclavian veins.
Author: Bill Webster, Anatomy Curriculum reference: 7.08 LT7 39. With respect to chronic myeloid leukaemia (CML) and / or chronic lymphocytic leukaemia (CLL) which one of the following is correct? A) CML typically exhibits a characteristic chromosomal translocation B) CLL patients have no increase in bacterial infections C) CLL can always be distinguished from lymphomas by examination of blood films D) In patients with CLL the incidence of carcinomas of skin and lung is not increased Answer A Chronic myeloid leukaemia in 95% of patients carries the Philadelphia chromosome produced by translocation 9;22. Although chromosomal abnormalities are found in over half of patients with chronic lymphocytic leukaemia there is no one uniform or constant chromosome abnormality. Chronic lymphocytic patients have an increased incidence of all infections due both to opportunistic and bacterial pathogens. Moreover chronic lymphocytic leukaemia may be indistinguishable from small lymphocytic lymphoma (in leukaemic phase) both on clinical examination and on blood film. Second malignancies (carcinomas at various sites) are increased in patients with chronic lymphocytic leukaemias. Author: J Wiley, Haematology Curriculum reference: 4.04 Lec 3 40. Which one of the following infections is commonly associated with severe neutropaenia from leukaemia chemotherapy? A) Listeria monocytogenes B) Mycobacterium tuberculosis C) Pseudomonas aeruginosa D) Herpes simplex virus Answer C The organism P. aeruginosa is a commonly isolated Gram-negative rod from CLL patients with neutropaenia. The organism gains access to the circulation when rapidly multiplying intestinal epithelium is damaged by chemotherapy. The organisms A, B and D are more likely where there is a T cell immune deficit, rather than neutropaenia. Author: A/Prof. R. Kearney, Infectious diseases Curriculum reference: LT 4.04 Immunodeficiency and common opportunistic infections L 1.08 Intracellular infections TS. 1.08 Intracellular infections/chronic inflammation and TB RFA3SBA2002 Case 6 Nicholas O'Brien is an 18 month old boy, brought to the Emergency Department by his mother. He is bleeding from the mouth. History taking reveals that he fell over two days previously and cut his mouth. His mother gave him some ice blocks and the bleeding eventually stopped several hours
later. However, it recurred that evening, and he has been bleeding on and off ever since. You consider the possibility that he has a bleeding disorder. 26. Which one of the following statements is correct? If Nicholas has A) Haemophilia A, then his father is likely to be a carrier of the disease B) Haemophilia B, then his mother is likely to be a carrier of the disease C) Von Willebrand's disease, then his sister has a 1 in 4 chance of also suffering from von Willebrand's disease D) Haemophilia A, the causative mutation lies on chromosome 21 Answer B A. False: Haemophilia A is an X-linked recessive disorder. If Nicholas has inherited haemophilia A, he did so from his mother. B. True: Haemophilia B is also an X-linked recessive disorder, so his mother is likely to be a carrier. C. False: Von Willebrand's disease is inherited as an autosomal dominant disorder, and therefore his sister has a 1 in 2 chance of also inheriting the disease. D. False: Haemophilia A is due to mutations in the factor VIII gene which is found on theX chromosome. Curriculum Reference: 4.03, LT3, LT6, BCS2 Author: John Rasko & Harry Hand, Haematology The laboratory investigations shown yield the following results: Indices Hb WCC Platelet count APTT (activated partial thromboplastin PT (prothrombin time) Renal and hepatic function
Results 115 g/L 10.5xl09/L 260 x 109/L *75 seconds 13 seconds normal
Reference Range 105-140 g/L 6.0-18.0 x 109/L 150-500 x 109/L 25-35 seconds 11-15 seconds
27. Which one of the following is most correct? A) Assays for coagulation factors VIII and IX should be performed B) Von Willebrand's disease is unlikely because the platelet count is normal C) Haemophilia A is unlikely because the prothrombin time is normal D) If Nicholas has haemophilia B, his platelet function is likely to be abnormal Answer A A. True: The presence of a significantly prolonged APTT with normal PT suggests a defect in the intrinsic pathway. Together with the history, the prolonged APTT indicates haemophilia A, haemophilia B or von Willebrand's disease are likely diagnoses. Therefore factors VIII and IX and von Willebr and factor should be assayed. B. False: Most patients with von Willebrand's disease have a normal platelet count even though platelet function is abnormal.
C. False: The prothrombin time tests the extrinsic pathway, whereas haemophilia A is due to reduced levels of factor VIII which is in the intrinsic pathway. D. False: Platelet function tests are normal in both haemophilia A and haemophilia B. Curriculum Reference: 4.03, Lecture 1, LT5, BCS1, BCS2 Author: John Gibson, Kevin Richard & Harry Hand, Haematology 28. In the coagulation cascade, which of the following factors, when activated, cleaves prothrombin to thrombin? A) Factor VIII B) Factor IX C) Factor X D) Factor XI Answer C Activated factor X, which is generated from either pathway, activates prothrombin to thrombin, which in turn leads to conversion of fibrinogen to fibrin which serves to stabilize the platelet plug. Curriculum References: 4.03 LT1 Author: Julie Curtin, Haematology 29. Vitamin K acts as a coenzyme for a reaction in which the clotting factors II, VII, IX and X are modified by carboxylation at glutamate residues. This modification has the effect of sensitizing these clotting factors to: A) Calcium ions B) Protein C C) Thrombin D) Warfarin Answer A gamma-carboxyglutamate residues in factors II, VII, IX and X act as binding sites for calcium ions (factor IV). Curriculum Reference: 4.03 LT2 Physiology of clotting factors Author: A Conigrave, Biochemistry 30. Some children with haemophilia also experience problems in psychosocial development. Which one of the following is indicative of psychosocial dysfunction in children aged 5 to 12 years? A) A growth in dependence on peers B) Acceptance of rules at school and in games C) A friendship network of less than five D) Little or no reduction in egocentricity from preschool levels Answer D
There is normally a reduction in egocentricity during the middle childhood years as children develop emotionally, becoming more aware of the differences between themselves and other people. This emotional development is marked by substantial gains in perspective-taking and empathy. Curriculum Reference: 4.03 Lect 4 "Psychosocial aspects of haemophilia" Author: Dr Di Sansom, Behavioural Sciences Case 11 Nathan Leung is a 5 year old boy who has been brought in by his parents who thought he was often listless and tired. The family is of South-East Asian origin. You are the family doctor. You think Nathan looks pale and you perform a series of blood tests. The blood film showed hypochromic microcytosis, with target cells, tear drop poikilocytes and basophilic stippling. You think thalassaemia is possible. The following results were found: HbA2 HbF HbEPG HbH bodies
3.5 % (normal range 1.5 - 3.5%) 96.5 % (normal range < 1%) no abnormal bands not detected
51. Haemoglobin: A) Features an oxygen binding, copper-chelated porphyrin-ring functional group B) Is composed of several globin molecules each containing a single haem moiety C) May be formed by co-existing beta and delta chains D) Affinity for oxygen increases in the presence of 2,3-diphosphoglycerate (DPG) Answer B Haem is an iron-chelatedporphyrin ring structure; 2,3-DPG decreases oxygen binding thereby releasing oxygen into the tissues. Curriculum Reference: 4.04 LT6 Structure of normal haemoglobins Author: Arthur Conigrave, Biochemistry 52. The basic defect seen in patients with (3-thalassaemia major is: A) Excess production of a structurally normal (3-globin chain B) Excess production of a structurally abnormal (3-globin chain C) Normal production of a structurally abnormal |3-globin chain D) Inadequate production of a structurally normal (3-globin chain Answer D f3-thalassaemia major is due to a reduced rate of production of structurally normal /3-globin Curriculum Reference: 4.02, Learning Topic 5 (Shortened red cell survival) 4.02, Learning Topic 6 (Structure of normal haemoglobins) 4.02, Learning Topic 7 (Abnormalities of haemoglobin genes) Author: Julie Curtin, Paediatrics & Child Health
53. HbF: A) Is made up of a2o2 tetramers B) Has a higher oxygen affinity than adult haemoglobin C) Forms the major fraction of total haemoglobin during late infancy D) Is the only haemoglobin present in the first two trimesters of gestation Answer B HbF (a2y2) has a higher oxygen affinity than maternal haemoglobin which facilitates the transfer of oxygen from the mother to the fetus. At birth HbF represents 70 - 90% of total haemoglobin, by 6 months it represents only 5%, it gradually reduces to the adult level of <1% during childhood. Other haemoglobins are present during the first two trimesters including Gowerl, Gower 2 and very small amounts of adult haemoglobin (HbA). Curriculum Reference: 4.02, Learning Topic 6(Structure of normal haemoglobins) 4.02, Learning Topic 7 (Abnormalities of globin gens) Author: Julie Curtin, Paediatrics & Child Health RFA3SBA2004 Case 6 Mr Nayudu is a 53 year old man who presents to his GP with mild dyspnoea on exertion and a history suggestive of angina. There is no history of blood loss. Results of a full blood count are given in the table below. An occult blood test was performed on a stool specimen and reported to be negative. Indices Haemoglobin MCV MCHC White Cell Count Platelets
Mr Nayudu's Results 75 g/L 65.3 fL 317 g/L 4.7 x 107L 426 x 10y/L
Normal Range 130 -180 g/L 80-100fL 300-350 g/L 4.0-11.0x10^ 150-400xl07L
26. Which one of the following disorders may manifest as hypochromic microcytic anaemia? A) Haemolytic anaemia B) Thalassaemia trait C) Liver disease D) Acute blood loss Answer B PBL reference: 4.01 Lee 4 Iron deficiency; 4.04 LT1 Microcytosis Author: James Isbister, Haematology 27. Which one of the following series of results would be consistent with iron deficiency? A) Increased transferrin saturation with iron, reduced serum ferritin, and normal serum
transferrin B) Reduced transferrin saturation with iron, reduced serum iron, and reduced total iron binding capacity C) Reduced serum ferritin, reduced iron saturation, and increased total iron binding capacity D) Reduced serum transferrin and reduced serum transferrin receptor Answer C A-False: This pattern suggests haemochromatosis. B-False: This pattern suggests anaemia of chronic disease. C-True: This combination is typical of iron deficiency. D-False: Serum transferrin and transferrin receptor levels are typically elevated in iron deficiency. PBL reference: 4.05, LT7 Tests of iron status in anaemia Author: Prof Paul Vincent, (RPAH) -adapted by C. Ward 28. Which one of the following is correct about iron? A) Iron is more readily absorbed in the ferric (Fe3+) form B) Iron absorption is enhanced in the presence of ascorbate C) Transferrin is the main reservoir of iron in the liver D) Ferritin represents the major circulating form of iron Answer B The ferrous form of iron is more readily absorbed and iron is stored as ferritin, not transferrin. Transferrin is the major circulating iron binding protein. PBL reference: 4.05 LT6 Iron metabolism Author:Dr Chris Ward, Dept of Haematology (RNSH) 29. The transfer of oxygen from haemoglobin to the tissues is: A) Decreased by 2,3-diphosphoglycerate (2,3-DPG) B) Increased at low pH C) Not affected by the storage of red cells at 4°C D) Enhanced by fetal haemoglobin Answer B 2,3-DPG lowers the affinity of haemoglobin for oxygen, thereby facilitating oxygen delivery to the tissues. Acidosis (lower pH) lowers the affinity of haemoglobin for oxygen, resulting in a shift to the right of the haemoglobin oxygen dissociation curve. The affinity for oxygen is greater in foetal than in adult haemoglobin. PBL Reference: 4.01, Lecture 1: Role of haemoglobin in oxygen delivery to tissues Follow up blood tests confirm iron deficiency.
30. Which one of the following is the most likely cause of anaemia in Mr Nayudu? A) Dietary iron deficiency B) Malabsorption C) Diverticulitis D) Gastrointestinal malignancy Answer D PBL reference: 4.01 Lee 3 Introduction to anaemia Author: James Isbister, Haematology 31. In the following donor recipient pairs, which of the red cell concentrates would be incompatible and potentially cause a serious haemolytic transfusion reaction? A) Donor Group O RhD Negative to Patient Group A RhD Positive B) Donor Group A RhD Positive to Patient Group A RhD Negative C) Donor Group AB RhD Positive to Patient Group B RhD Positive D) Donor Group O RhD Positive to Patient Group AB RhD Positive Answer C PBL reference: BCS2 group x-match Author: James Isbister, Haematology RFA3SBA2005 Case 6 A Cambodian woman is admitted to hospital in premature labour at 32 weeks gestation with her first pregnancy. Following development of fetal distress she undergoes an emergency Caesarian Section. Her baby son is pale, and jaundiced, and has marked hepatosplenomegaly and ascites. FBC demonstrates a haemoglobin of 60 g/L (NR 140 - 225 g/L). Blood film demonstrates hypochromic red cells, target cells, polychromasia and nucleated red cells. Haemoglobin analysis shows mainly HbBart’s (γ4) with a small amount of HbH (β4); HbA, A2 and F are absent. 28. The diagnosis is most likely to be: 1 A) Haemoglobin H disease 2 B) Hydrops fetalis 3 C) Homozygous sickle cell anaemia 4 D) Congenital methaemoglobulinaemia Answer B Reference: 4.04 LT7 Abnormalities of haemoglobin genes 29. Which of the following is correct? α-thalassaemia: 1 A) Results most commonly from gene deletions
2 B) Results most commonly from point mutations 3 C) Can result from an acquired gene deletion 4 D) Is an X linked recessive disorder Answer A Reference: 4.04 LT7 Abnormalities of haemoglobin genes 30. In the developed world, most patients who have homozygous or compound heterozygous forms of β-thalassaemia die as a result of: 1 A) Anaemia 2 B) Infections, including HIV, hepatitis C and bacterial infections 3 C) Transfusion-related iron overload 4 D) Bone marrow failure Answer C Reference: 4.04 Lec 1 Thalassaemia 31. Which of the following conditions does NOT present with a microcytic hypochromic anaemia? 1 A) Sideroblastic anaemia 2 B) β-thalassaemia trait 3 C) β-thalassaemia major 4 D) Hereditary spherocytosis 5 Answer D Reference: 4.04 BCS1 Interpreting lab tests in anaemia 32. When fully constituted with iron and porphyrins, what is the maximal number of molecules of oxygen that can be carried by one molecule of haemoglobin? 1 A) None 2 B) One 3 C) Two 4 D) Four Answer D The molecular structure of hemoglobin is α2β2. Each subunit has one oxygen carrying heme group. Reference: Structure of normal Haemoglobin 4.04 LT 6
