血红蛋白A2-巴斯德-突尼斯型[δ59（E3）赖氨酸→天冬酰胺，AAG→AAC]：在一名携带密码子39（C→T）β0地中海贫血突变的突尼斯携带者中通过DNA测序检测到的一种新的δ链变体。

Hb A2-Pasteur-Tunis [delta59(E3)Lys-->Asn, AAG-->AAC]: a new delta chain variant detected by DNA sequencing in a Tunisian carrier of the codon 39 (C-->T) beta0-Thalassemia mutation.

作者信息

Moumni Imen, Zorai Amine, Daoued Bechir Ben, Mosbahi Ikbel, Omar Souheil, Kaabachi Neziha, Dellagi Koussay, Abbes Salem

机构信息

Laboratoire d'Hématologie Moléculaire et Cellulaire, Institut Pasteur, Tunis, Tunisia.

出版信息

Hemoglobin. 2007;31(1):23-9. doi: 10.1080/03630260601057005.

DOI:10.1080/03630260601057005

PMID:17365002

Abstract

We describe a new delta-globin variant, Hb A2-Pasteur-Tunis [delta59(E3)Lys-->Asn, AAG-->AAC]. This hemoglobin (Hb) displayed an electrophoretic mobility faster than normal Hb A2 and was expressed at 2.2 %. The molecular defect was characterized by DNA sequencing and confirmed by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)-designed protocol. Hb A2-Pasteur-Tunis was found in a carrier of a codon 39 (C-->T) beta0-thalassemia (thal), presenting with a normal Hb A2 level. Phenotype and genotype investigations revealed that the total Hb A2 level of the patient was that expected for a minor beta-thal (4.8%).

摘要

我们描述了一种新的δ-珠蛋白变体，即Hb A2-巴斯德-突尼斯型[δ59(E3)赖氨酸→天冬酰胺，AAG→AAC]。这种血红蛋白（Hb）的电泳迁移率比正常Hb A2快，表达水平为2.2%。通过DNA测序对分子缺陷进行了表征，并通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）设计的方案进行了确认。在一名39密码子（C→T）β0地中海贫血（地贫）携带者中发现了Hb A2-巴斯德-突尼斯型，其Hb A2水平正常。表型和基因型研究表明，该患者的总Hb A2水平为轻度β地贫预期水平（4.8%）。