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, MumbaiTRANSCRIPT
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Control Strategies forControl Strategies for Hemoglobinopathies in India
Roshan B.ColahScientist F Dep t Director (SG)Scientist F- Deputy Director (SG),
National Institute of Immunohaematology,Parel, Mumbai
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Population Statistics - Census of India – 2011p
Population - 1 21 billionPopulation - 1.21 billion(Represents 17.3% of the World’s population)Tribal population - 8.14%72 2% of the population live in 6 38 000 villages72.2% of the population live in 6,38,000 villages 27.8% of the population live in 5480 towns and citiesAge <25 years 50%Age - <25 years - 50%Literacy – 63.8% to 93.9% (Average- 74%)
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Burden of Hemoglobinopathies
‐thalassemia carriers ‐ 1-17% thalassemia carriers 1 17% Hb E carriers - 2 –50%
Hb S i 0 35% Hb S carriers - 0 –35%Each Year 8,000 - 12,000 births with severethalassemiasthalassemias > 5000 births with sickle cell disease
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Micromapping Studies on -Thalassemiain Western India
Individuals screened - 18,651Une en distrib tion of the freq encies of thalassemiaUneven distribution of the frequencies of -thalassemia Maharashtra - 1-6%Gujarat - 0-9.5%Expected annual births of homozyogtesp y gMaharashta - 588 (Maximum birth – Thane– 111)G j t 460 (M i bi thGujarat - 460 (Maximum births –
Junaghad – 104)
Colah et al. Br.J.Haematol, 2010; 149:739 -47
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Management of children with -thalassemia major
• Estimated homozygotes - > 100,000
• Regular Transfusion - 10-15% of casesg& adequate iron chelationchelation
• Haemopoietic Stem Cell - Available at ~ 15 centresTransplantation Not affordable by most p y
families• Marrow Donor registries Being established• Marrow Donor registries - Being established
Verma et al Indian.J.Med.Res.2011; 134: 507-21
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Establishment of Regional Centres for Screening – ICMR (2000 -2005)( )
Awareness Screening
Training for Carrier Detection
Counselling
Training for Carrier Detection
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Challenges for Control of Hemoglobin DisordersChallenges for Control of Hemoglobin Disorders
Diverse population - Ethnicity, Culture, Religion, Literacy
Limited awareness - University students - 7 - 50%- Pregnant women - 0.2 -20%
MBBS d 19%- MBBS doctors - 19%Late registration in - 10-15% in the first trimester
l li iantenatal clinicsSocial stigmatization - Premarital screening generally not
t blacceptableInequality in - Urban v/s rural
il bilit favailability of services
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Technology used for Screening gy g
-thalassemias RBC indices and HPLC analysis y Remote areas and resource poor settings –
NESTROFTNESTROFT
Sickle cell disorders Solubility TestSolubility Test Hb Electrophoresis or HPLC analysis
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Borderline HbA2 Levels2
HbA 2 - 3.3 – 3.9% seen in 1 - 1.5% of -h l i hthalassemia heterozygotes
• Capsite +1 (AC), poly A (TC), -88 (CT)• Occasionally with IVS 1 – 5 (GC), CD 15 y ( ),
(GA), CD 30 (GA)• -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
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-Thalassemia
Deletional thale et o a t aCaste Populations - 3.0 -23.0%Tribal Populations - 17 0 - 97 0%Tribal Populations 17.0 97.0%
HbH Disease is rare t ti i I di gene mutations in Indians
- 3.7, - 4.2, - - SA, - - SEA, Sallanches, poly A Indian
Shaji et al. Br.J.Haematol 2003;123:942-7Nadkarni et al. Genet. Test. 2008; 12:177-80Nadkarni et al Am.J. Clin. Pathol. 2010; 133:491-4
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Screening and Management of Sickle Cell DisordersDisorders
National Rural Health Mission - Programmes in some states
Gujarat
I t t d i th i ti G t H lth S i Integrated in the existing Govt. Health Services 419 centres include - 333 Primary Health Centres
70 C it H lth C t- 70 Community Health Centres- 12 District General Hospitals
2 Go t Medical College- 2 Govt. Medical College- 2 NGO
Awareness and Education Programmes Awareness and Education Programmes Training for Medical Officers, Laboratory Technicians,
CounsellorsCounsellors Screening the tribal population
Sickle Cell Anemia Control Programme, NRHM, Gujarat, 2010
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Centres for Prenatal Diagnosis in India
Chandigarh
g
Delhi
L k
Chandigarh
Atleast one Lucknow
Kolkata
one centre i h
Ahmedabad
Mumbai
in each state is
Hyderabadneeded
Vellore
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Technology for Prenatal Diagnosis - Diagnostic approach
1st trimester CVS 2nd trimester Fetal blood1st trimester - CVS 2nd trimester – Fetal blood
HPLCRDB HPLC
ARMS
SequencingDNA analysis when required
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Regional distribution of thalassemia mutationsRegional distribution of thalassemia mutations
Around 9,000 thal alleles characterized , 65 mutations
th l t ti i t 7 –thal mutations are common in caste groups (>90% of alleles)
2 mutations common in tribals No of mutations - 5 to 22 in different statesNo. of mutations 5 to 22 in different states
Gujarat - CD 5 (-CT) - 3rd most commonGoa - IVS II – 837 (TG) - most common
Garewal et al . Br.J.Haematol. 1994; 86:372-6 Verma et al Hum. Genet. 1997; 100: 109-13
Edison et al. Clin. Genet. 2008; 73: 331-7 Colah et al Blood Cell Mol. Dis. 2009; 42: 241-6
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Database of thalassemias andDatabase of thalassemias and hemoglobinopathies in India
ThalInd http://ccg.murdoch.edu.au/thalind
Sinha et al Hum.Mutat. 2011;32:887-93
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Prenatal Diagnosis of Hemoglobinopathies atPrenatal Diagnosis of Hemoglobinopathies at NIIH (1986-2011)
1st Trimester - 1687N f P iNo.of Pregnancies
2529 2nd Trimester - 842
Prospective Diagnosis thalassemia - 7% of couples Sickle cell disorders - 33% of couples
Prenatal diagnosis & termination of affected pregnancies -A t bl b ll itiAcceptable by all communities
Colah et al Indian.J.Med.Res. 2011;134:552-60
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Establishment of Regional Centres for Prenatal Diagnosis –ICMR (2008 -2011)( )
Training of Obstetricians & CMC,Ludhiana Sonologists
CVS NRS Medical
College,Kolkota
NIIH, Mumbai
Valsad Raktadan Kendra Valsad
Govt. Medical College Nagpur
Cordocentesis NIIH, Mumbai
Co-ord. Centre
College Nagpur
St.John Medical
College, Bangalore
Training in Molecular & Prenatal Diagnosis
g , g
CRDB
ARMS
VNTR analysis
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Workshops in Medical Colleges(2010-2012)
Hands on training - Screening and molecular analysisin Hemoglobinopathiesin Hemoglobinopathies
Workshops held - 7
Medical Colleges covered - 41g
Pathologists/HematologistsPathologists/HematologistsScientists/ Lab Technologists trained - 109
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Newborn Screening for Sickle CellNewborn Screening for Sickle Cell Disorders
Started in Maharashtra, Gujaratand Chattisgarhand Chattisgarh
Cohort of sickle homozygous babies (tribal and non - tribal) followed up
Greater awareness among these parents g p Few parents opted for prenatal diagnosis
i b t iin subsequent pregnancies
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National Control Programme for HemoglobinopathiesHemoglobinopathies
Is being initiated by ICMR
Phase I – Delhi, Chandigarh and Punjab
Will eventually involve Central and State G & NGOGovernments & NGOs
Training and Quality Assurance will be included
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AcknowledgementsAcknowledgements
Dr. K.Ghosh Dr D Mohanty Dr.D.Mohanty
Staff - Dept of Haematogenetics Staff - Collaborating Institutions Staff - Collaborating Institutions
Dr.Reena Das
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THANK YOU