Kakkar Naveen
Department of Pathology, Christian Medical College & Hospital, Ludhiana.
Indian J Pathol Microbiol. 2005 Jul;48(3):408-10.
Hemoglobin E is a beta chain variant that has its most clinically significant interaction with thalassaemia. The compound heterozygous state, thus produced, can result in a thalassaemia intermedia/major phenotype with affected individuals being transfusion dependent. Hemoglobin E is very common in north-east India with relatively fewer reportsfrom rest of the country. Reports of hemoglobin E in the Punjabi population are even rarer. A case of hemoglobin E-thalassaemia in a Sikh child is being presented because of its highly uncommon occurrence in natives of Punjab.
血红蛋白E是一种β链变体,它与地中海贫血的临床关联最为显著。由此产生的复合杂合状态可导致中间型/重型地中海贫血表型,患者需要依赖输血。血红蛋白E在印度东北部非常常见,而该国其他地区的相关报道相对较少。旁遮普人群中血红蛋白E的报道更为罕见。本文报告了一例锡克族儿童的血红蛋白E-地中海贫血病例,因为这种情况在旁遮普本地人中极为罕见。