Moumni Imen, Zorai Amine, Daoued Bechir Ben, Mosbahi Ikbel, Omar Souheil, Kaabachi Neziha, Dellagi Koussay, Abbes Salem
Laboratoire d'Hématologie Moléculaire et Cellulaire, Institut Pasteur, Tunis, Tunisia.
Hemoglobin. 2007;31(1):23-9. doi: 10.1080/03630260601057005.
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%).
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%）。
