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血红蛋白泰贝[密码子38/39(-ACC)(α1)]中的血栓形成。

Thrombosis in Hb Taybe [codons 38/39 (-ACC) (α1)].

作者信息

Juul Maja Bech, Vestergaard Hanne, Petersen Jesper, Frederiksen Henrik

机构信息

Department of Haematology, Odense University Hospital, Odense, Denmark.

出版信息

Hemoglobin. 2012;36(6):600-4. doi: 10.3109/03630269.2012.746230.

Abstract

Hb Taybe is a highly unstable hemoglobin (Hb) variant caused by a 3 bp deletion at codons 38/39 (-ACC) on the α1-globin gene. We report for the first time, a patient with a compound heterozygosity for Hb Taybe and a 5 bp deletion at the splice donor site of IVS-I on the α2-globin gene and ischemic stroke and priapism. The patient, a male of Palestinian origin, suffered since childhood from moderate hemolytic anemia. Splenectomy was performed at the age of 19. Five years after the splenectomy, recurring attacks of priapism occurred and at the age of 28 the patient had a pontine infarction. A heterozygote prothrombin G20210A mutation was found. We assume that ongoing intravascular hemolysis, splenectomy and the prothrombin G20210A mutation may explain the thrombotic tendency in this case.

摘要

塔伊贝血红蛋白(Hb Taybe)是一种高度不稳定的血红蛋白(Hb)变异体,由α1 - 珠蛋白基因第38/39密码子处的3个碱基对缺失(-ACC)引起。我们首次报告了一名患者,该患者为Hb Taybe复合杂合子,且α2 - 珠蛋白基因IVS - I剪接供体位点存在5个碱基对的缺失,并患有缺血性中风和阴茎异常勃起。该患者为巴勒斯坦裔男性,自幼患有中度溶血性贫血。19岁时进行了脾切除术。脾切除术后5年,出现反复发作的阴茎异常勃起,28岁时患者发生脑桥梗死。发现了杂合子凝血酶原G20210A突变。我们推测,持续的血管内溶血、脾切除术和凝血酶原G20210A突变可能解释了该病例中的血栓形成倾向。

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