Sickle cell disease in India.

ABSTRACT

A screening programme involving 9,822 hospitalised patients revealed the frequency of individuals with S gene to be 11.1 per cent. A population survey of 1,000 randomised subjects from amongst about 70,000 people in one block of the area showed the frequency to be 15.1%. The gene is not confined to tribal peoples, but is prevalent throughout the society, being more frequent in scheduled castes and some caste Hindus. With the available Indian data a sickle cell belt can be mapped out in the country. Analysis of clinical data on the first 700 cases of sickle cell disease seen in the Sickle Cell Research Centre (ICMR) at Burla shows patients of all ages, even beyond 40 years, though many patients tend to die by 20 years of age. Genetically, while most patients are SS and 8.1% are S-beta thalassaemia, cases of SD disease and SE disease were also encountered. A frequency of 0.32% of alpha thalassaemia gene was noted in SS patients against 0.28% in sickle cell trait and 0.12% in AA controls. The disease was found to manifest as early as 3 months or may remain asymptomatic till adult life. Though generally running a milder course, moderate to severe anaemia, vaso-occlusive attacks (86.5-89.36%), splenic sequestration (8.43%-12.76%), crippling avascular bone necrosis (5.7%-35.08%), osteomyelitis (5/700), and epistaxis (28.92%-35.08%) remain a few clinical events deserving competent and urgent medical management.(ABSTRACT TRUNCATED AT 250 WORDS)