Sickle Cell Anemia Control Project Department of Health & Family Welfare, Gandhinagar, Gujarat
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Background The state of Gujarat is characterized by tribal, desert, coastal and geographically hostile terrain having sparse and scattered population at the periphery. Communities living in the remote and disadvantaged areas especially tribal population and women, are sometimes unable to access reliable and cost effective health care services. The state has 12 predominantly tribal districts viz. Suart, Tapi, Navsari, Valsad, Dang, Bharuch, Narmada, Vadodara, Panchmahal, Dahod, Sabarkantha and Banaskantha having population of 89, 12,623. There are different primitive tribes in this area. The main tribes resides in this area are Kukna, Kolcha, Kothvadia, Chaudhary, Bhil, etc. This tribal community has their own health problems which is differ than of the non tribal community. Tribal area of Gujarat is being from Ambaji in northen side to Dang in Southern side. Most of the area is hilly and forest, which are very difficult to serve any services.
Introduction Sickle Cell Anemia (SCA) is a hereditary anemia, predominantly seen amongst various tribal populations of India. Sickle gene is found all over the world, particularly amongst people originated/migrated from Malaria endemic areas of Africa & Asia. According to one of the hypothesis, it is a natural mutation in Hemoglobin molecule to protect RBCs from malarial parasites by making them a little rigid, so that malarial parasites can not enter into RBCs.1 Consequently Sickle Cell gene is mainly present amongst tribal group only, who originated from malaria endemic forest areas. SCA occurs due to inherited abnormal hemoglobin (Hb) gene, which produce Hb-S (Hb-Sickle). Due to the presence of Hb-S and because of its abnormal characteristic, converts RBCs into rigid-brittle half moon (Sickle) shaped instead of soft round biconcave shape, which is the main cause of complication of Sickle Cell disease. The diagnosis of SCA is only possible by carrying out a simple special blood test known as Sickling test on RBCs and further testing by either Hb electrophoresis or by HPLC technique to find out whether the person is heterozygous or homozygous.
Since the development of Microscope by Jansson in 1950, Sickle cell is the first red cell abnormality that was found out in 1910 by James Herric. And since than lots of research has been done in the field of Sickle Cell Anemia all over the world but very little work was done particularly in India. In 1952 Lehmann & Cutbush reported Hb-S in tribal population of Nilgiri in south India. And after that many research papers have been published in the scientific journals but the fruits of the research had not reached to the common disease suffering tribal people. There was no follow up and neither the research subjects were intimated about the presence of sickle gene. Neither the members of medical community, practicing in tribal areas of India were aware of the existence of Sickle gene in tribal population. This has resulted in misdiagnosis and mistreatment.
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Sickle Cell Anemia in India: Hemoglobinopathies including Thalassemia with an estimated 10,000 live births each year and Sickle cell disease (SCD) with an estimated 5,200 live births each year are a major public health problem in India. Although SCD has been described in India in numerous ethnic groups, it is most prevalent among indigenous ethnic groups, classified as scheduled tribes, who have a high prevalence of socio-economic disadvantage and are frequently medically underserved. ICMR took initiative in the year 1987 and again in 1999, to quantify the burden of Sickle Cell Gene in India through its multi centric project and has published following results. According to ICMR survey Sickle Cell gene is found amongst different tribal groups of India, which varies from 5 to 34 %2. According to WHO, 10 % of Sickle Disease patients die by the age of 1 year and in many sub-Saharan countries mortality is much higher than that.3
India has also a very huge populations of tribal community about 18 crore and expected to have 1.80 crore sickle cell trait and 14 lakhs of sickle cell disease. These show the big burden on the public health of India. Other state like Maharastra, Chhattisgadh, Madhya Pradesh, Orissa, Andhra Pradesh, Tamil Nadu also have a problem of Sickle Cell Anemia in Tribal area in variable quantam. Estimated Prevalence of Sickle Cell Anemia in Gujarat and India
Total Population
Gujarat (As per India (As Census 2011) Census 2011) 6,03,83,628 1,21,01,93,422
Tribal Districts
12
593
Tribal Population @ 14.76%
89,12,623
17,86,24,549
Suspected Sickle Trait @ 10.0 %
8,91,262
1,78,62,455
Suspected Sickle Cell Disease Patients @ 0.75 %
66,845
13,39,684
per
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Sickle Cell Anemia – Pathophysiology SCA occurs due to inherited abnormal hemoglobin (Hb) gene, which produce Hb-S (HbSickle). The normal human Red Blood Cells (RBCs) carries Hb-A (adult hemoglobin), which helps RBCs in transportation of oxygen in the body. In case of Sickle Cell RBCs, on deoxygenation (after transferring oxygen to body tissues) because of the presence of Hb-S and because of its abnormal characteristic, converts RBCs into rigid-brittle half moon (Sickle) shaped instead of soft round biconcave shape. The rigidity and abnormal shape reduce their ability to be propelled through tiny capillaries & formation of entangled masses of cells in larger blood vessels. This obstructs the blood flow into organs, producing temporary or permanent organ dysfunction or structural changes and retarded growth. Because of their abnormal shape, the spleen in the body destroys these RBCs, causing enlargement of spleen. Life span of RBC in SCD is less then 30 days instead of 90 to 120 days. Anemia results from the bone marrow’s inability to produce enough blood cells to keep pace with the rate of destruction.
Signs & Symptoms:
The common Sign and symptoms of SCA are: Pallor
• • • • • •
•
Pallor, Frequent jaundice Bone & Body ache Enlarged Spleen, Retarded Growth Frequent Infections Dactylitis (Hand-foot Syndrome)
Enlarged spleen
Frequent jaundice Dectylitis
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Diagnosis: The diagnosis of Sickle Cell Anemia is very simple. It is only possible by carrying out a simple special blood test known as Sickling test on RBCs and further testing by either Hb electrophoresis or by HPLC technique to find out whether the person is heterozygous or homozygous. Sickling Test is also known as DTT (Di-ithionide Tube Turbidity) test. This test is very simple and can also be done at field level in villages also. It can be performed by paramedics after proper training. We can found whether the person carry the sickle gene or not by this test. Hb electrophoresis or HPLC test can confirm that person is heterozygous (Sickle Cell Trait) or Homozygous (Sickle Cell Disease). HPLC test is performed in Sickle Cell Anemia Control Program for confirmation as this test is advanced and highly specific over Hb electrophoresis.
Inheritance: Sickle Cell Anemia is hereditary anemia. Sickle gene is transmitted from parent to child. If either of the parent is having Sickle gene, than the child may be normal or Sickle trait (heterozygous) and if both the parent are having Sickle gene, than the child may be Sickle disease (homozygous) or Sickle Trait or Normal. Prevention of Sickle Disease child birth is only possible by marriage counseling and prenatal diagnosis.
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Why Sickle Cell Anemia needs Specific Program: 20% of Sickle disease children die by the age of two. As per one of the ICMR survey 30% of disease children among the tribal community die before they reach adulthood. Even if they survive, life time risk of disease remains same. Early diagnosis can save the life and allow better management of the disease but screening is not a common practice and the diagnosis is usually made when a patient presents with a severe complications. Being genetic in nature, the numbers are bound to rise, if suitable intervention is not made. Sickle disease child birth can be prevented through marriage counseling, adolescent screening, antenatal screening and prenatal diagnosis. Early diagnosis can lead to better management and reduction in morbidity and mortality. Lives can be saved through proper treatment and care and Productivity loss can also be arrested.
Sickle Cell Anemia Control Program of Gujarat: Gujarat has 89.12 lakh tribal population and is expected to have at least 9,00,000 Sickle trait and 70,000 Sickle disease patients. The Dhodia, Dubla, Kukna, Gavit, Chaudhary, Halpati, Varli, Kokni, Kathodi, Kolcha, Kotwadia etc. are among the major tribes having Sickle Cell problem in Gujarat. According to ICMR survey amongst the primitive tribes of south of Gujarat, viz; Kolcha, Kotwadia & Kathodi; 30 % of Sickle diseased children die before they reach adulthood (14 years) and the remaining 70 % die by the age of 50.4 Gujarat State in India has a large population belonging to the scheduled tribes and is the only state to implement a program for screening and treatment of Sickle Cell Anemia. We propose to increase mass awareness among Tribal Belt of Gujarat about sickle cell disease to ensure early detection of this disease and prompt treatment seeking behavior among schedule tribes of Gujarat. This will be implemented as an integral part of the state sickle cell disease program and primary care network. The Sickle Cell Anemia problem has been neglected throughout these years in India. Gujarat is the first State in India to incorporate Sickle cell anemia control programme in the existing health services of State Government. This comprehensive program fulfills the guidelines on Sickle Cell Anemia recommended by WHO, by agenda item 11.4, A59/9, at 59th World Health Assembly. The program will help in early diagnosis – New Born Screening (NBS),
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treatment and counseling of Sickle Cell Disease patients including prevention by marriage counseling and prenatal diagnosis as per WHO strategy. During 2005-06, Govt. of Gujarat has taken concrete steps for establishing a Comprehensive Sickle Cell Program in four districts of south Gujarat, viz.; Surat, Navsari, Valsad & Dang with the intention to include remaining districts of Gujarat. This program is based on public-private partnership. It has been extended to all 12 tribal districts of Gujarat in 2008. Gujarat Sickle Cell Anemia Control Society has been formed under society registration act 21 of 1860 to integrate all the activities done by different departments and NGOs in Gujarat for prevention and control of Sickle Cell Anemia under one umbrella. Goals of Program: No Child birth with Sickle Disease by 2020 Prevention of death from Sickle Cell Crisis To improve health status and quality of life of Sickle Cell Anemia patients.
Strategies adopted in Program: Mass Screening on Mission Mode on PPP model Antenatal Screening of Eligible Tribal Couple New Born Screening Children, Adolescent and Mass Screening Prenatal diagnosis Vaccination against other infectious diseases like pneumonia & hepatitis Counseling Necessary Laboratory investigations Treatment and Follow up.
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Facilities available in Program: Initially, 78 Government and NGO Institutions were involved in this program from 4 tribal districts of south Gujarat, now as on today, in the year 2012-13, there are 446 centers in all over 12 tribal districts of Gujarat involved in Comprehensive care of Sickle Cell Anemia patients. Sr. No. 1 2 3 4 5
Institutions
In 2005-06
Medical Colleges General Hospitals PHC CHC NGO Total
Now in 2011-12
1 3 44 29 1 78
2 12 359 71 2 446
Kind of facilities available at above centers: Sr. No. 1 2 3 4 5
Facilities available
In 2005-06
Now in 2011-12
Primary Screening for Sickle Cell (DTT) test, Counseling and Treatment Hemoglobin Electrophoresis
78
446
21
21
HPLC based Hb Variant system for quantitative estimation of different haemoglobin HPLC based Variant-NBS system for New Born Screening for SCA from heel prick dry blood samples from filter paper. Molecular Lab for prenatal diagnosis and Genetic Counseling Center
2
3
0
1
0
1
Human Resources Deputy Director (Epidemic) at the Commissioner ate of Health office at state level is a state nodal officer for Sickle Cell Anemia Control Program along with the support of one Medical Officer, one Technical Supervisor and Budget & Finance Assistant specially designated for this program. At district level, Epidemic Medical Officer of district is the Nodal Officer who looks after and monitors all the activities of this program. Special human resource has been created to carry forward the comprehensive health care program in all tribal districts under the grant of Health and Family Welfare and NRHM along with periodical training. From State Budget Human Resources
12
From NRHM 119
Total 131
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Sickle Cell Anemia Screening Experience worldwide suggests that prevention of Sickle Cell Anemia and other hemoglobinopathies requires a empowering of community to take informed decision. And before empowering them, creation of all available facilities is up most important. The Government of Gujarat has now developed all required facilities starting from Premarital Screening, Antenatal Diagnosis and even Newborn Screening for Sickle Cell Anemia and following strategies are being implemented in the state.
Life Cycle Approach: The screening under this program covers the all age group from new born to old age people. The main target group for screening is the adolescents, antenatal and new borne. As this disease is genetic in nature and there is no cure for this disease, prevention is the only way to keep away this disease. For this marriages between Sicklers and normal or two Sicklers have to be prevented. Therefore Government of Gujarat has adopted policy of screening of adolescents. So we can diagnose the sickle cell gene in pre marriage age and advise them to whom they should marry. Our all Antenatal mothers in the tribal area are screened for Sickle Cell Anemia at “Mamta Divas”- a special immunization day in village. If mother is found positive for sickle gene, her husband is also screened. If husband and wife both found positive for sickle gene, they are advised for pre-natal diagnosis. If fetus is found to have sickle cell disease, legal MTP is advised. If Antenatal is not registered is early stage, then MTP is not allowed, fetus is delivered and new born screening is done from the blood spot taken from hill prick on filter paper. All adults and geriatric persons are screened in mass screening camps held in community with the help of tribal development department. Thus sickle cell anemia screening program covers the whole life cycle. This is the unique feature of the program.
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Adolescent Screening Premarital or Adolescent screening of tribal individuals is crucial for marriage counseling. As this group is educated, it will help in spreading awareness about the disease. This group is the focused group because we can prevent the marriages at this stage between to sicklers and prevent the spread of disease in next generation.
Antenatal, Husbands & Prenatal Screening Screening of tribal Antenatal cases and their husband in case of positive ANCs will provide us an opportunity to take better care at the time of delivery and also to carry out Prenatal Diagnosis, which will be useful in reducing birth of child with Sickle Cell Disease hence will reduce burden of disease in Gujarat.
No. of Antenatal Mothers Screened for Sickle Cell 2,60,777 Anemia No. of Antenatal Mothers found Sickle Cell Trait 17,035 No. of Antenatal Mothers found Sickle Cell Disease
1000
Out of 108 high risk Sickle Positive couples, 45 (41.66 %) couples were provided genetic counseling. Out of that 26 (57.77 %) were advised prenatal diagnosis. Efforts are initiated for early registration of ANC cases. 14 couples opted for PND and 7 Sickle diseased child birth was prevented.
Newborn Screening Newborn screening for Sickle Cell Anemia is a specialized technique and diagnosis of Sickle Cell Disease in early infancy is vital for early initiation of intervention and counseling services. This is being used extensively in developed countries and data have shown to reduce morbidity and mortality amongst patients diagnosed through Newborn Screening.
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Till June 2012, out of 5,601 newborn screened from Sickle positive mothers, 45 (0.80%) were diagnosed as SCD child and are enrolled for comprehensive care with family counseling.
Mass Screening Government of Gujarat has taken up a challenging task of Mass Sickle Cell Screening of all 89 lakh tribal population of Gujarat. Screening will be done in the tribal areas on mass scale by camp mode on public private partenership basis. Gujarat Government has decided to cover up the screening of all remaining tribal population for Sickle Cell Anemia in next coming three years. For that expression of intreset has been invited from private NGOs, Trusts, Companies, etc. Screening will be done on mission mode in next three years in all tribal districts on mision mode.
Counseling: Counseling is the key object of this program. All the Sickle Cell traits and Sickle Cell Disease patients are counseled regularly by our trained counselors. Family counseling is done at the door step of this community. All the Adolescents are counseled for their marraige and future pregnancy. All the tribal persons are given color coded card according to their Sickle Cell Status, which will help them in marriage decision. After distributing above cards, adolescents are advised to avoid marriages between two yellow card holders to avoid Sickle Disease child birth.
Normal Hemoglobin Card
Sickle Trait Card
Sickle Disease Card
Treatment and follow-up of sickle cell disease
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Sickle cell patients will be provided with the required treatment by the concerned health institutions. All the Sickle Cell disease patients are visited regularly every month by our health care workers and given the folic acid tablet for one month quota for 1 tab daily to reduce the crisis episodes and maintain the Hb level and pain killers if required. More over if these patients have any crisis, they are reffered to our refferal institues including CHCs, FRUs and Cottage Hospitals. District Hospitals and Civil Hospitals serve as tertiary care centres for Sickle Cell disease patients. Sickle Cell disease patients get the blood at free of cost from our blood storage units and assured tie-up blood banks, when required.
Advanced Stem Cell Therapy facilities Govt. of Gujarat has already signed MOU with GIOSTAR, USA based company for creating stem cell faculties at Govt. Medical College, Surat. Stem cell transplantation will bring a hope of survival for all Sickle cell disease patients in Gujarat.
Gujarat Sickle Cell Anemia Control Society: Gujarat Sickle Cell Anemia Control Society has been formed under chairmanship of Hon'ble Health Minister with Co-chair of Hon'ble Tribal Development Minister and registered under society registration act 21 of 1860. The main objective of this society is to integrate all the activities done by different departments and NGOs in Gujarat for prevention and control of Sickle Cell Anemia under one umbrella and doing the work in focused manner to achieve the goals of this program within time frame. The governing body has decided to focus not only on the tribal person in the tribal districts but to reach tribal person in entire Gujarat state. The first governing body meeting has been done in December-2011 to discuss the next strategy for Sickle Cell Anemia Control in the State. The Society has decided to complete the screening of remaining tribal population in next three years. Screening activity will be done on mission mode with help of different NGOs in all district of tribal area. Expression of Interest has been called for screening activity from NGOs, Trusts and companies. Five more HPLC centers will be established in tribal districts for screening, so target can be completed within time frame.
Key benefits of programme initiated •
Till this date total 18,28,499 persons have been screened out of total 89 lakhs tribal population and among these 2,10,749 persons have been identified as sickle trait while 12,086 sickle cell diseased persons have been identified
•
All 12,267 Sickle cell disease patients diagnosed till now were put in to the comprehensive care system and have been regularly supplied basic medications like Folic Acid and Pain Killers through sub centers and PHCs. IV fluids, antibiotics etc. are also provided at PHCs, CHCs and at higher referral centers. Many of these patients with sever disease were put on Hydroxyurea therapy. Counselors are trained to provide them care & support with follow up.
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• • •
2,10,749 Sickle Trait – gene carriers were provided counseling about their status and were also provided marriage counseling and given monthly quota of Tab. Folic acid and painkillers for daily use, by field health workers. Arrangements were created for supply of free blood and blood products to all these patients as and when required in emergency through Regional Blood Centers and First referral Units.1579 blood transfusion were given to sickle disease patients free of cost in 2011. 1904 sickle crisis patients have been given treatment in year 2011.
IMPACT OF PROGRAM & SUSTAINABILITY The Common Tribal People are most benefited. Today they get regular free medicine at their door step; hence there is marked reduction in crisis. The overall life expectancy of tribal people has improved. Better and persistent health care has reduced frequency of crisis which will help in reducing morbidity & mortality. Awareness among medical Practitioners has increased dramatically in respect to Diagnosis & Treatment. Marriage counseling, Antenatal screening and prenatal diagnosis are being advised by medical doctors. The Fruits of the Program have reached to the door step of under-served– The Tribal People.
Achievement Sickle cell Anemia Control Programme run by the Commissionerate of Health and family Welfare of Government of Gujarat has been awarded with "Prime minister Award for Excellence in Public Administration" for the activities carried out in 2009-10 in tribal districts and the amount of Rs Five lacs have been given as cash award on 21st April 2011. On behalf of Government of Gujarat Commissioner of Health and Family Welfare received this award from Hon'ble Prime minister Shri Manmohan Singh.
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