一名血红蛋白S/β地中海贫血患者因468碱基对缺失导致高血红蛋白A2β地中海贫血。

High Hb A2 beta-thalassemia due to a 468 bp deletion in a patient with Hb S/beta-thalassemia.

作者信息

Patterson Margie, Walker Lynda, Eng Barry, Waye John S

机构信息

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

出版信息

Hemoglobin. 2005;29(4):293-5. doi: 10.1080/03630260500311651.

DOI:10.1080/03630260500311651

PMID:16370492

Abstract

We describe a case of Hb S/beta-thalassemia (thal) involving a 468 bp deletion that removes the beta-globin gene promoter but leaves the coding regions intact. This is the second report of this deletion, and our family study establishes that this deletion causes beta0-thal with unusually high levels of Hb A2 and Hb F. As with other genotypes involving deletions of the 5' region of the beta-globin gene, our patient had a mild form of Hb S/beta-thal.

摘要

我们描述了一例血红蛋白S/β地中海贫血（β地贫）病例，该病例存在一个468 bp的缺失，该缺失去除了β珠蛋白基因启动子，但编码区保持完整。这是该缺失的第二篇报道，我们的家系研究证实，此缺失导致β0地贫，伴有异常高水平的血红蛋白A2和血红蛋白F。与其他涉及β珠蛋白基因5'区域缺失的基因型一样，我们的患者患有轻度形式的血红蛋白S/β地贫。