India - Current Situation in Control Strategies and Health Systems in Asia
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India - Current Situation in Control Strategies and Health Systems in Asia

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Current Situation in Control Strategies and Health Systems in Asia - India by Roshan B.Colah, Scientist F- Deputy Director (SG), National Institute of Immunohaematology, Parel, Mumbai

Current Situation in Control Strategies and Health Systems in Asia - India by Roshan B.Colah, Scientist F- Deputy Director (SG), National Institute of Immunohaematology, Parel, Mumbai

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  • 1. Control Strategies for Hemoglobinopathies in India Roshan B.Colah Scientist F- Dep t Director (SG), F Deputy (SG)National Institute of Immunohaematology, Parel, Mumbai
  • 2. Population Statistics - Census of India – 2011 p Population - 1 21 billion 1.21 (Represents 17.3% of the World’s population) Tribal population - 8.14% 72.2% 72 2% of the population live in 6,38,000 villages 6 38 000 27.8% of the population live in 5480 towns and cities Age - <25 years - 50% Literacy – 63.8% to 93.9% (Average- 74%)
  • 3. Burden of Hemoglobinopathies ‐thalassemia carriers ‐ 1-17%  thalassemia 1 17% Hb E carriers - 2 –50% Hb S carriers - 0 –35% i 35% Each Year 8,000 - 12,000 births with severe thalassemias > 5000 births with sickle cell disease
  • 4. Micromapping Studies on -Thalassemia in Western IndiaIndividuals screened - 18,651Une en distribution of the freq encies of  thalassemiaUneven distrib tion frequencies -thalassemiaMaharashtra - 1-6%Gujarat - 0-9.5%Expected annual births of homozyogtes p y gMaharashta - 588 (Maximum birth – Thane– 111)GujaratG j t - 460 (Maximum births – (M i bi th Junaghad – 104) Colah et al. Br.J.Haematol, 2010; 149:739 -47
  • 5. Management of children with -thalassemia major• Estimated homozygotes - > 100,000• Regular Transfusion g - 10-15% of cases & adequate iron chelation• Haemopoietic Stem Cell - Available at ~ 15 centres p Transplantation Not affordable by most y families• Marrow Donor registries - Being established Verma et al Indian.J.Med.Res.2011; 134: 507-21
  • 6. Establishment of Regional Centres for Screening – ICMR ( (2000 -2005) ) Awareness  Screening  Counselling Training for Carrier Detection Training for Carrier Detection
  • 7. Challenges for Control of Hemoglobin DisordersDiverse population - Ethnicity, Culture, Religion, LiteracyLimited awareness - University students - 7 - 50% - Pregnant women - 0.2 -20% - MBBS doctors - 19% dLate registration in - 10-15% in the first trimesterantenatal clinics l li iSocial stigmatization - Premarital screening generally not acceptable t blInequality in - Urban v/s ruralavailability of il bilit fservices
  • 8. Technology used for Screening gy g-thalassemias RBC indices and HPLC analysis y Remote areas and resource poor settings – NESTROFTSickle cell disorders Solubility Test Hb Electrophoresis or HPLC analysis
  • 9. Borderline HbA2 Levels HbA 2 - 3.3 – 3.9% seen in 1 - 1.5% of - thalassemia h h l i heterozygotes• Capsite +1 (AC), poly A (TC), -88 (CT)• Occasionally with IVS 1 – 5 (GC), CD 15 y ( ), (GA), CD 30 (GA)• -thalassemia heterozygotes with  gene  yg g mutations• - thalassemia heterozygotes with  gene  yg g triplication Garewal et al Eur.J.Haematol. 2007; 79:417-21 Colaco et al Indian.J.Haemtol. & Blood. Transf. 2011; 27:242
  • 10. -Thalassemia Deletional  thal e et o a t a Caste Populations - 3.0 -23.0% Tribal Populations - 17.0 97.0% 17 0 - 97 0% HbH Disease is rare  gene mutations in Indians t ti i I di - 3.7, - 4.2, - - SA, - - SEA,  Sallanches,  poly A Indian Shaji et al. Br.J.Haematol 2003;123:942-7 Nadkarni et al. Genet. Test. 2008; 12:177-80 Nadkarni et al Am.J. Clin. Pathol. 2010; 133:491-4
  • 11. Screening and Management of Sickle Cell Disorders National Rural Health Mission - Programmes in some statesGujarat I t Integrated i th existing Govt. Health Services t d in the i ti G t H lth S i 419 centres include - 333 Primary Health Centres - 70 C Community H lth C t it Health Centres - 12 District General Hospitals - 2 Go t Medical College Govt. - 2 NGO Awareness and Education Programmes Training for Medical Officers, Laboratory Technicians, Counsellors Screening the tribal population Sickle Cell Anemia Control Programme, NRHM, Gujarat, 2010
  • 12. Centres for Prenatal Diagnosis in India g ChandigarhAtleast Delhione Lucknow L kcentre Ahmedabad Kolkataini each hstate is Mumbaineeded Hyderabad Vellore
  • 13. Technology for Prenatal Diagnosis - Diagnostic approach 1st trimester - CVS 2nd trimester – Fetal blood HPLC RDB ARMS DNA analysis when Sequencing required
  • 14. Regional distribution of  thalassemia mutations Around 9,000  thal alleles characterized , 65 mutations 7  –thal mutations are common in caste groups   th l t ti i t (>90% of alleles) 2 mutations common in tribals No of mutations - 5 to 22 in different states No. Gujarat - CD 5 (-CT) - 3rd most common Goa - IVS II – 837 (TG) - most commonGarewal et al . Br.J.Haematol. 1994; 86:372-6 Verma et al Hum. Genet. 1997; 100: 109-13Edison et al. Clin. Genet. 2008; 73: 331-7 Colah et al Blood Cell Mol. Dis. 2009; 42: 241-6
  • 15. Database of  thalassemias and hemoglobinopathies in India ThalIndhttp://ccg.murdoch.edu.au/thalind Sinha et al Hum.Mutat. 2011;32:887-93
  • 16. Prenatal Diagnosis of Hemoglobinopathies at NIIH (1986-2011) 1st Trimester - 1687No.of PregnanciesN fP i 2529 2nd Trimester - 842Prospective Diagnosis thalassemia - 7% of couples Sickle cell disorders - 33% of couplesPrenatal diagnosis & termination of affected pregnancies - Acceptable b all communities A t bl by ll iti Colah et al Indian.J.Med.Res. 2011;134:552-60
  • 17. Establishment of Regional Centres for Prenatal Diagnosis – ICMR (2008 -2011) ( ) Training of Obstetricians & CMC,Ludhiana Sonologists CVSValsad Raktadan Kendra Valsad NRS Medical College,Kolkota Cordocentesis Govt. Medical NIIH, Mumbai College Nagpur Co-ord. Centre Training in Molecular & PrenatalSt.John MedicalCollege, Bangalore g , g Diagnosis CRDB ARMS VNTR analysis
  • 18. Workshops in Medical Colleges (2010-2012)Hands on training - Screening and molecular analysis in HemoglobinopathiesWorkshops held - 7Medical Colleges covered g - 41Pathologists/HematologistsScientists/ Lab Technologists trained - 109
  • 19. Newborn Screening for Sickle Cell Disorders Started in Maharashtra, Gujarat and Chattisgarh Cohort of sickle homozygous babies (tribal and non - tribal) followed up Greater awareness among these p g parents Few parents opted for prenatal diagnosis in b i subsequent pregnancies t i
  • 20. National Control Programme for Hemoglobinopathies Is being initiated by ICMR Phase I – Delhi, Chandigarh and Punjab Will eventually involve Central and State Governments & NGOs G NGO Training and Quality Assurance will be included
  • 21. Acknowledgements Dr. K.Ghosh Dr D Mohanty Dr.D.Mohanty Staff - Dept of Haematogenetics Staff - Collaborating Institutions Dr.Reena Das
  • 22. THANK YOU