Compound Heterozygous Sickle Cell-ß-Thalassemia: A Case Report from Upper Assam, India
Mr. Sidhartha Protim Saikia,
Department of Anatomy, Assam Medical College & Hospital, Dibrugarh-786002, Assam, India.
|Sickle cell-ß-thalassemia [Hb S/ß- thalassemia] is a rare type of hemoglobinopathy. The clinical characteristics of Hb S/ß- 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 ß-thalassemia allele. In this study we presented a case of compound heterozygous Hb S/ß- 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 ß-thalassemia; ARMS-PCR and DNA sequencing were performed. The HPLC report suggested that the patient have Hb S/ß- thalassemia and molecular diagnosis confirmed that the patient inherited IVS I-5 (G?C) ß- thalassemia mutation.|
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