Al-Musawi Bassam Ms, Al-Allawi Nasir, Abdul-Majeed Ban A, Eissa Adil A, Jubrael Jaladet Ms, Hamamy Hanan
Department of Pathology, College of Medicine, University of Dohuk, Azadi Hospital road, 1014 AM Dohuk, Iraq.
BMC Blood Disord. 2012 Mar 27;12:4. doi: 10.1186/1471-2326-12-4.
Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent.
A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C→T), Chatham (1003 G→A), A- (202 G→A) and Aures (143 T→C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C→T) silent mutation.
G6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%).
Three polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to other Asian Arab countries, neighboring Turkey and Iran.
尽管葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是伊拉克人中最常见的遗传性血液疾病，但其分子基础直到最近才在伊拉克北部的库尔德人中得到研究，而针对伊拉克其他地区阿拉伯人的研究仍然缺乏。
从巴格达的国家输血中心随机招募了1810名看似健康的成年男性献血者。根据高铁血红蛋白还原试验（MHRT）的结果，将他们分为G6PD缺乏者和非缺乏者，并通过后续的酶测定来确认缺乏情况。对缺乏者的DNA进行研究，使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测四种缺乏分子变体，即G6PD地中海型（563 C→T）、查塔姆型（1003 G→A）、A-型（202 G→A）和奥雷斯型（143 T→C）。对具有地中海型变体的一部分人，进一步研究其1311（C→T）沉默突变。
在1810名接受筛查的男性个体中，检测到109例G6PD缺乏症（6.0%）。在101名接受分子研究的G6PD缺乏男性中，检测到75例（74.3%）为地中海突变，5例（5.0%）为G6PD查塔姆型，2例（2.0%）为G6PD A-型，未检测到G6PD奥雷斯型。在研究的51例具有地中海型变体的G6PD缺乏男性中，检测到48例（94.1%）存在1311沉默突变。
三种多态性变体，即地中海型、查塔姆型和A-型，在伊拉克巴格达男性G6PD缺乏变体中占比超过80%。这一观察结果在一定程度上与其他亚洲阿拉伯国家、邻国土耳其和伊朗相当。
