The burden of haemoglobinopathies in India and the challenges ahead [Review]

摘要

Among the inherited disorders of blood, haemoglobinopathy and thalassaemia constitute a major bulk of noncommunicable genetic diseases in India. They cause a high degree of morbidity, moderate to severe haemolytic anaemia among vulnerable segments of the society like infants and children, adolescent girls, pregnant women, etc. and several deaths in India. It has been estimated that with a population of 1000 million at the new millennium (2000) and a birth rate of 25 per thousand, there would be about 45 million carriers and about 15,000 infants born each year with haemoglobinopathies in India. The carrier frequency of haemoglobinopathy varies between 3 and 17% in different populations of India. The cumulative gene frequency of the three most predominant abnormal haemoglobins, i.e. sickle cell, haemoglobin D and haemoglobin E has been found to be 5.35% in India. This article provides glimpses of haemoglobinopathy and thalassaemia with special emphasis on the epidemiology, diagnosis and clinical profile, and hematological characteristics, distribution and prevalent mutations in India. The current status and challenges of haemoglobinopathies have also been highlighted and discussed with special reference to India. [References: 117]