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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India - Current Situation in Control Strategies and Health Systems in Asia
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 â 2011
p
Population - 1 21 billion
1.21
(Represents 17.3% of the Worldâs 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 â 63.8% to 93.9% (Average- 74%)
3.
4. Burden of Hemoglobinopathies
ď§ ď˘âthalassemia carriers â 1-17%
ď˘ thalassemia 1 17%
ď§ Hb E carriers - 2 â50%
ď§ Hb S carriers - 0 â35%
i 35%
Each Year
8,000 - 12,000 births with severe
ď˘ď thalassemias
> 5000 births with sickle cell disease
5. Micromapping Studies on ď˘-Thalassemia
in Western India
Individuals screened - 18,651
Une en distribution of the freq encies of ď˘ thalassemia
Uneven distrib tion frequencies ď˘-thalassemia
Maharashtra - 1-6%
Gujarat - 0-9.5%
Expected annual births of homozyogtes
p y g
Maharashta - 588 (Maximum birth â Thaneâ 111)
Gujarat
G j t - 460 (Maximum births â
(M i bi th
Junaghad â 104)
Colah et al. Br.J.Haematol, 2010; 149:739 -47
6. Management of children with ď˘-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
7. Establishment of Regional Centres for Screening â ICMR
(
(2000 -2005)
)
Awareness ScreeningÂ
Counselling
Training for Carrier Detection
Training for Carrier Detection
8. Challenges for Control of Hemoglobin Disorders
Diverse population - Ethnicity, Culture,
Religion, Literacy
Limited awareness - University students - 7 - 50%
- Pregnant women - 0.2 -20%
- MBBS doctors - 19%
d
Late registration in - 10-15% in the first trimester
antenatal clinics
l li i
Social stigmatization - Premarital screening generally not
acceptable
t bl
Inequality in - Urban v/s rural
availability of
il bilit f
services
9. Technology used for Screening
gy g
ď˘-thalassemias
ď§ RBC indices and HPLC analysis
y
ď§ Remote areas and resource poor settings â
NESTROFT
Sickle cell disorders
ď§ Solubility Test
ď§ Hb Electrophoresis or HPLC analysis
10. Borderline HbA2 Levels
HbA 2 - 3.3 â 3.9% seen in 1 - 1.5% of ď˘-
thalassemia h
h l i heterozygotes
⢠Capsite +1 (Aď C), poly A (Tď C), -88 (Cď T)
⢠Occasionally with IVS 1 â 5 (Gď C), CD 15
y ( ),
(Gď A), CD 30 (Gď A)
⢠ď˘-thalassemia heterozygotes with ď¤ gene
ď˘ yg g
mutations
⢠ď˘- thalassemia heterozygotes with ďĄ gene
ď˘ yg g
triplication
Garewal et al Eur.J.Haematol. 2007; 79:417-21
Colaco et al Indian.J.Haemtol. & Blood. Transf. 2011; 27:242
11. ďĄ-Thalassemia
ď§ Deletional ďĄ thal
e et o a t a
Caste Populations - 3.0 -23.0%
Tribal Populations - 17.0 97.0%
17 0 - 97 0%
ď§ HbH Disease is rare
ďĄ gene mutations in Indians
t ti i I di
-ďĄ 3.7, -ďĄ 4.2, - - SA, - - SEA, ďĄ Sallanches, ďĄ 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
12. Screening and Management of Sickle Cell
Disorders
ď§ National Rural Health Mission - Programmes in some states
Gujarat
ď§ 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
ď§ Awareness and Education Programmes
ď§ Training for Medical Officers, Laboratory Technicians,
Counsellors
ď§ Screening the tribal population
Sickle Cell Anemia Control Programme, NRHM, Gujarat, 2010
13. Centres for Prenatal
Diagnosis in India
g
Chandigarh
Atleast Delhi
one Lucknow
L k
centre Ahmedabad Kolkata
in
i each h
state is Mumbai
needed Hyderabad
Vellore
14. Technology for Prenatal Diagnosis - Diagnostic approach
1st trimester - CVS 2nd trimester â Fetal blood
HPLC
RDB
ARMS
DNA analysis when
Sequencing required
15. Regional distribution of ď˘ thalassemia mutations
ď§ Around 9,000 ď˘ thal alleles characterized
,
ď§ 65 mutations
ď§ 7Â ď˘ âthal mutations are common in caste groups
Â ď˘ th l t ti i t
(>90% of alleles)
ď§ 2 mutations common in tribals
ď§ No of mutations - 5 to 22 in different states
No.
Gujarat - CD 5 (-CT) - 3rd most common
Goa - IVS II â 837 (Tď G) - 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
16. Database of ď˘ thalassemias and
hemoglobinopathies in India
ThalInd
http://ccg.murdoch.edu.au/thalind
Sinha et al Hum.Mutat. 2011;32:887-93
17. Prenatal Diagnosis of Hemoglobinopathies at
NIIH (1986-2011)
1st Trimester - 1687
No.of Pregnancies
N fP i
2529 2nd Trimester - 842
Prospective Diagnosis
ď§ ď˘ďthalassemia - 7% of couples
ď§ Sickle cell disorders - 33% of couples
Prenatal 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
18. Establishment of Regional Centres for Prenatal Diagnosis â
ICMR (2008 -2011)
( )
Training of Obstetricians &
CMC,Ludhiana
Sonologists
CVS
Valsad Raktadan
Kendra Valsad
NRS Medical
College,Kolkota Cordocentesis
Govt. Medical
NIIH, Mumbai College Nagpur
Co-ord. Centre
Training in Molecular & Prenatal
St.John Medical
College, Bangalore
g , g
Diagnosis
CRDB
ARMS
VNTR analysis
19. Workshops in Medical Colleges
(2010-2012)
Hands on training - Screening and molecular analysis
in Hemoglobinopathies
Workshops held - 7
Medical Colleges covered
g - 41
Pathologists/Hematologists
Scientists/ Lab Technologists trained - 109
20. Newborn Screening for Sickle Cell
Disorders
ď§ Started in Maharashtra, Gujarat
and Chattisgarh
ď§ Cohort of sickle homozygous babies
(tribal and non - tribal) followed up
ď§ Greater awareness among these p
g parents
ď§ Few parents opted for prenatal diagnosis
in b
i subsequent pregnancies
t i
21. National Control Programme for
Hemoglobinopathies
ď§ Is being initiated by ICMR
ď§ Phase I â Delhi, Chandigarh and Punjab
ď§ Will eventually involve Central and State
Governments & NGOs
G NGO
ď§ Training and Quality Assurance will be
included
22. Acknowledgements
ď§ Dr. K.Ghosh
ď§ Dr D Mohanty
Dr.D.Mohanty
ď§ Staff - Dept of Haematogenetics
ď§ Staff - Collaborating Institutions
ď§ Dr.Reena Das