title: Double heterozygous for hemoglobin S and hemoglobin E - a case report from central India.
abstract: Double heterozygosity for HbS and HbE is rare. HbS and HbE are seen in SC, ST and OBC communities from this part of country. Inter caste marriages amongst these communities have resulted into this compound heterozygous condition. Double heterozygous state for HbS and HbE is clinically silent as compared to HbS-β Thalassaemia and HbSS cases. At Regional Hemoglobinopathy Detection and Management Center, we report a case of 15-year-old male, Teli (OBC) by caste who came for screening for sickle cell disorder. Sickling, solubility test and Hb electrophoresis on agar gel at alkaline pH was carried out. His sickling and solubility tests were positive and on hemoglobin electrophoresis it showed two bands one at Hb A(2) position and another at HbS position. For further confirmation sample was subjected for quantitation of haemoglobin on high performance liquid chromatography (HPLC), Bio-Rad. On quantitation he was having HbS 59.8%, HbE 33.5% and HbF 3.2% confirming his double heterozygous state for HbS and HbE. On family screening his father turned out to be sickle cell trait and mother as hemoglobin E trait.
authors.affiliation: Department of Pathology, I.G.M.C., Nagpur, India.
authors.forename: A A
authors.initials: AA
authors.lastname: Dani
authors.forename: A V
authors.initials: AV
authors.lastname: Shrikhande
keywords: HPLC; HbE; HbSE; Hemoglobinopahty