Compound Heterozygous Sickle Cell-β-Thalassemia: A Case Report from Upper Assam, India

Abstract

Sickle cell-β-thalassemia [Hb S/β-thalassemia] is a rare type of hemoglobinopathy. The clinical characteristics of Hb S/β-thalassemia are highly variable from a completely asymptomatic state to a severe disorder like homozygous sickle cell disease. In India IVS I-5 (G→C) is the most common β-thalassemia allele. In this study we presented a case of compound heterozygous Hb S/β-thalassemia in a 14-year-old female with complaints of anemia with weakness, joint pain and splenomegaly. The patient and her parents were diagnosed by HPLC and for detection of mutational pattern of β-thalassemia; ARMS-PCR and DNA sequencing were performed. The HPLC report suggested that the patient have Hb S/β-thalassemia and molecular diagnosis confirmed that the patient inherited IVS I-5 (G→C) β-thalassemia mutation.