Screening for Hemoglobinopathies: An Inceptive Experience of Centre of Excellence for Sickle Cell Disease
摘要
To estimate the prevalence of various hemoglobinopathies among newborns, women in antenatal clinic and children presenting with signs and symptoms suggestive of sickle cell disease (SCD).
MethodsA hospital-based prospective study was conducted at a Centre of Excellence for SCD (COESCD). Dried blood spot (DBS) samples were collected for newborn screening using heel-prick and venous samples were used in the post-neonatal age group. Hemoglobin variant analysis was performed using high-performance liquid chromatography (HPLC).
ResultsOut of 26,642 neonates screened, 1.87% (n = 498) were found to have abnormal hemoglobin patterns. The prevalence of hemoglobin variants detected among women screened during antenatal check-up and children with signs and symptoms of SCD were found to be 6.11% and 22.69%, respectively.
ConclusionIntensive screening programs have led to detection of a large number of cases with hemoglobinopathies including rare hemoglobin variants.