Genetic disorders in haematological practice in India

Haemoglobinopathies represent a significant national health burden in India. The distribution of specific disorders varies geographically and by community. Heterozygote frequencies of beta-thalassaemia range from 1 to 15%, resulting in an estimated 20 million carriers. HbS is mainly present in tribal and non-caste communities, with carrier prevalences of up to 40%. By comparison, alpha-thalassaemia carriers are found in both the caste and tribal communities, and can reach a frequency of >90% in the latter case. Community control of haemoglobinopathies relies mainly on out-reach education programmes and genetic counselling, with antenatal diagnosis offered in specific major centres. Only partial data are available on the prevalence of haemophilia, but it has been estimated that there are some 50,000 affected individuals nationwide, with an additional 1,500 new cases born each year. RFLP-based techniques have been established to detect mutations in the factor VIII and IX genes, enabling the limited introduction of carrier detection and antenatal diagnosis.