Prevalence of the Beta-s Gene and Sickle Cell Disease in India

This thesis decribes a study with two parts: first, screening of targeted people groups in Nagpur was conducted in 2003-2012 to determine the prevalence of the βs gene. Screening was conducted at study camps and at the Indira Gandhi Medical Hospital; of 35,636 individuals screened, 5,437 with sickle cell trait were identified, and 1,010 with sickle cell disease. 

Second, 726 patients were followed from January 2008 to May 2012 to determine the clinical phenotype of sickle cell disease in this population. During this time period, all clinical events presented to the Government Medical College hospital in Nagpur, Maharashtra were recorded and analyzed. The severity of symptoms identified and analyzed through this study is in contrast to previous publications that suggested a milder phenotype of sickle cell disease in India. Because patients were diagnosed when they presented with clinical manifestations rather than on newborn screening, comparability with other large studies may be limited.