Al-Allawi Nasir A S, Jalal Sana D, Rasheed Najeeb S, Bayat Nooshin, Imanian Hashem, Najmabadi Hossein, Faraj Azad
Department of Pathology and Scientific Research Center, School of Medicine, Faculty of Medical Sciences, University of Dohuk, Dohuk 1014AM, Iraq.
Hemoglobin. 2013;37(1):56-64. doi: 10.3109/03630269.2012.749490. Epub 2012 Dec 7.
In an attempt to determine the spectrum of α-thalassemia (α-thal) mutations in the Kurdish population of Northeastern (NE) Iraq, a total of 101 unrelated adults with unexplained hypochromia and/or microcytosis were enrolled. α-Thalasssemia mutations were characterized by gap polymerase chain reaction (gap-PCR), multiplex PCR (m-PCR) and reverse hybridization and sequencing for both α genes. A total of nine α-thal mutations were characterized including four deletional ones: -α(3.7) (rightward), - -(MED-I), -(α)(20.5), -α(4.2) (leftward) and five nondeletional ones: α(polyA1)α, αα(Adana), α(-5 nt)α, α(CS)α and α(polyA2)α. These determinants were arranged in 12 different genotypes, the most frequent of which were: -α(3.7)/αα, - -(MED-I)/αα, -α(3.7)/-α(3.7), α(polyA1)α/αα, αα(Adana)/αα and -(α)(20.5)/αα. This pattern is similar to that reported in Turkey, western (W) Iran, Cyprus and Greece, and to some extent, different from the pattern observed in the Arabian Peninsula.
为了确定伊拉克东北部库尔德人群中α地中海贫血（α-地贫）突变谱，共纳入了101名患有不明原因低色素血症和/或小红细胞症的非亲属成年人。通过缺口聚合酶链反应（gap-PCR）、多重PCR（m-PCR）以及对两个α基因进行反向杂交和测序来鉴定α-地贫突变。共鉴定出9种α-地贫突变，包括4种缺失型：-α(3.7)（向右）、--(MED-I)、-(α)(20.5)、-α(4.2)（向左），以及5种非缺失型：α(polyA1)α、αα(Adana)、α(-5 nt)α、α(CS)α和α(polyA2)α。这些决定因素排列成12种不同的基因型，其中最常见的是：-α(3.7)/αα、--(MED-I)/αα、-α(3.7)/-α(3.7)、α(polyA1)α/αα、αα(Adana)/αα和-(α)(20.5)/αα。这种模式与土耳其、伊朗西部（W）、塞浦路斯和希腊报道的模式相似，并且在一定程度上与阿拉伯半岛观察到的模式不同。
