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Genetic disorders in haematological practice in India
D Mohanty1, R B Colah, A C Gorakshakar
1Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai, India. mohanty@bom5.vsnl.net.in
Community Genetics
|February 13, 2004
Summary
Haemoglobinopathies are a major health issue in India, with varying prevalence of beta-thalassaemia, HbS, and alpha-thalassaemia across communities. Genetic counselling and antenatal diagnosis are key for managing these genetic blood disorders.
Area of Science:
- Medical Genetics
- Public Health
- Hematology
Background:
- Haemoglobinopathies pose a significant health burden in India.
- Prevalence and distribution of disorders like beta-thalassaemia, HbS, and alpha-thalassaemia vary geographically and by community.
- Haemophilia affects an estimated 50,000 individuals nationwide, with 1,500 new cases annually.
Purpose of the Study:
- To summarize the prevalence and community distribution of major haemoglobinopathies and haemophilia in India.
- To outline current strategies for community control and genetic diagnosis of these disorders.
Main Methods:
- Review of existing data on the prevalence of beta-thalassaemia, HbS, and alpha-thalassaemia carriers.
- Estimation of haemophilia prevalence based on available data.
- Description of established RFLP-based techniques for genetic mutation detection.
Main Results:
- Beta-thalassaemia heterozygote frequencies range from 1-15% (20 million carriers).
- HbS carrier prevalence can reach 40% in tribal and non-caste communities.
- Alpha-thalassaemia carrier frequencies exceed 90% in some tribal communities.
Conclusions:
- Community control relies on education and genetic counselling, with antenatal diagnosis in major centers.
- RFLP techniques facilitate carrier detection and antenatal diagnosis for haemophilia.
- Addressing the burden of haemoglobinopathies requires continued public health efforts and genetic screening.