Compound Heterozygous Sickle Cell-β-Thalassemia: A Case Report from Upper Assam, India
Journal Title: National Journal of Laboratory Medicine - Year 2016, Vol 5, Issue 2
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.
Authors and Affiliations
Dr. Anju Barhai Teli, Dr. Rumi Deori, Mr. Sidhartha Protim Saikia, Dr. Bipul Ch. Kalita
Keywords
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- EP ID EP379509
- DOI 10.7860/NJLM/2016/19216:2115
- Views 131
- Downloads 0
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