Al-Allawi Nasir A S, Jalal Sana D, Nerwey Farida F, Al-Sayan Galawezh O O, Al-Zebari Sahima S M, Alshingaly Awny A, Markous Raji D, Jubrael Jaladet M S, Hamamy Hanan
Department of Pathology, School of Medicine, Faculty of Medical Sciences, University of Dohuk, Dohuk, Iraq.
Hemoglobin. 2012;36(4):333-42. doi: 10.3109/03630269.2012.692344. Epub 2012 Jun 11.
Epidemiological studies have revealed that sickle cell disease patients are clustered in two geographical areas in Iraq, one among the Arabs in the extreme south, another among the Kurdish population in the extreme north, where they constitute major health problems. However, no studies have focused on the genotypes responsible for sickle cell disease or the β-globin gene haplotypes associated with it. For the latter purpose, a total of 103 unrelated Kurdish sickle cell disease patients were evaluated by restriction fragment length polymorphism (RFLP) for the sickle cell mutation, followed by multiplex polymerase chain reaction (PCR) and reverse hybridization for β- and α-thalassemia (β- and α-thal) mutations, whenever indicated. Results showed that the most common genotype was sickle cell anemia (68.0%) followed by Hb S/β(0)-thal and Hb S/β(+)-thal at frequencies of 24.2 and 7.8%, respectively. Eight β-thal mutations were associated with the latter two genotypes including: IVS-II-1 (G>A), IVS-I-110 (G>A), codon 8 (-AA), codon 44 (-C), codon 22 (-7 bp), IVS-I-1 (G>A), codon 30 (G>C) and IVS-I-6 (T>C). In Hb SS patients, the -α(3.7) deletion was documented in 10.0% and was the only α-thal mutation detected. Furthermore, 5' β-globin gene cluster haplotyping of 128 β(S) chromosomes revealed that the most common haplotype seen in 69.5% was the Benin haplotype, followed by the Arab-Indian haplotype in 12.5%. These latter findings closely resemble reports from neighboring Turkey, Syria, Jordan, Lebanon and Mediterranean countries, suggesting a possible common origin, but are in contrast to findings from the Eastern Arabian Peninsula and Iran.
流行病学研究表明，伊拉克镰状细胞病患者集中在两个地理区域，一个在最南部的阿拉伯人群体中，另一个在最北部的库尔德人群体中，这两个群体中的镰状细胞病构成了主要的健康问题。然而，尚无研究聚焦于导致镰状细胞病的基因型或与之相关的β珠蛋白基因单倍型。为了研究后者，对总共103名无亲缘关系的库尔德镰状细胞病患者进行了限制性片段长度多态性（RFLP）分析以检测镰状细胞突变，随后在必要时通过多重聚合酶链反应（PCR）和反向杂交检测β地中海贫血（β-地贫）和α地中海贫血（α-地贫）突变。结果显示，最常见的基因型是镰状细胞贫血（68.0%），其次是Hb S/β(0)-地贫和Hb S/β(+)-地贫，频率分别为24.2%和7.8%。后两种基因型与8种β-地贫突变相关，包括：IVS-II-1（G>A）、IVS-I-110（G>A）、密码子8（-AA）、密码子44（-C）、密码子22（-7 bp）、IVS-I-1（G>A）、密码子30（G>C）和IVS-I-6（T>C）。在Hb SS患者中，-α(3.7)缺失的检出率为10.0%，是唯一检测到的α-地贫突变。此外，对128条β(S)染色体进行的5'β珠蛋白基因簇单倍型分析显示，最常见的单倍型是贝宁单倍型，占69.5%，其次是阿拉伯-印度单倍型，占12.5%。这些结果与邻国土耳其、叙利亚、约旦、黎巴嫩以及地中海国家的报道非常相似，表明可能有共同的起源，但与阿拉伯半岛东部和伊朗的研究结果相反。
