Sickle cell disease in India

Abstract

Sickle cell disease (SCD) poses a considerable health burden in India. This review focuses on the recent initiatives to understand the variable phenotypes, the role of hydroxyurea in patients with the Asian haplotype and the feasibility of newborn screening, awareness and control programs. A systematic long follow up of patients in central India has documented the clinical events and the causes of significant morbidity and mortality. Fixed low dose hydroxyurea was sufficient for a clinical and hematological response in severe patients who had high baseline fetal hemoglobin (HbF) levels. Follow-up of birth cohorts of SCD babies initiated recently has shown that in central India babies clinically present with early and severe anemia, requiring blood transfusions, and septicemia, which are the most common complications, whereas babies from tribal communities in south Gujarat have no severe complications. Greater awareness has led to increasing requests for prenatal diagnosis. SCD in India is not uniformly mild despite high fetal hemoglobin levels. The benefits of comprehensive care and hydroxyurea therapy have been demonstrated. Newborn screening is acceptable and is beginning to throw light on the natural history of the disease. The central and state governments are now supporting the establishment of centers for the diagnosis of patients and comprehensive care.