两名患有血红蛋白H病的西班牙患者中新发现的α地中海贫血-1的特征分析。

Characterization of a newly discovered alpha-thalassaemia-1 in two Spanish patients with Hb H disease.

作者信息

Gonzalez-Redondo J M, Diaz-Chico J C, Malcorra-Azpiazu J J, Balda-Aguirre M I, Huisman T H

机构信息

Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.

出版信息

Br J Haematol. 1988 Dec;70(4):459-63. doi: 10.1111/j.1365-2141.1988.tb02517.x.

DOI:10.1111/j.1365-2141.1988.tb02517.x

PMID:3219296

Abstract

A new deletion of more than 27 kb, removing the psi zeta 1, psi alpha 2, psi alpha 1, alpha 2, alpha 1 and theta 1 globin genes has been found in four members of a Spanish family, including two patients with Hb H disease. The 5' end point of the deletion is located between the zeta and psi zeta genes, and the 3' end of the deletion is downstream of the 3' hypervariable region.

摘要

在一个西班牙家庭的四名成员中发现了一个新的超过27 kb的缺失，该缺失移除了假ζ1、假α2、假α1、α2、α1和θ1珠蛋白基因，其中包括两名患有Hb H病的患者。该缺失的5'端点位于ζ和假ζ基因之间，缺失的3'端点位于3'高变区的下游。