Rahimi Z, Karimi M, Haghshenass M, Merat A
Department of Biochemistry, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran.
Am J Hematol. 2003 Nov;74(3):156-60. doi: 10.1002/ajh.10422.
Sickle cell anemia in Iran is accompanied by a high level of HbF and mild clinical presentation. Here we report haplotypes of the beta gene cluster found in 81 randomly selected sickle cell patients, including 47 sickle cell anemia (SS), 17 sickle cell trait (AS), and 17 sickle/thalassemia (S/thal) from southwest Iran. We found all five common typical haplotypes as well as five atypical haplotypes in our patients. Except for four patients with homozygous Benin haplotype, none of the other African typical haplotypes were found in a homozygous state. Arab-Indian was found to be the most prevalent haplotype in the study population. This haplotype accounted for 51.1% as the homozygous form in SS patients, where 69.1% of chromosomes in these patients had the Arab-Indian haplotype. Bantu A2 was the second most prevalent haplotype among all patients. The mean %HbF in SS patients was 27.83 and in the homozygous Arab-Indian haplotype it was still higher (30.40%), while in AS patients the %HbF was only 1.20. The high %Ggamma chain (71.81) in the Arab-Indian homozygous haplotype was concomitant with the presence of an Xmn I site in both chromosomes. The presence of the Arab-Indian haplotype as the predominant haplotype might be suggestive of a gene flow to/from Saudi Arabia or India. More haplotype investigations of a normal population can clarify the high incidence of Bantu A2 haplotype in our population.
伊朗的镰状细胞贫血伴有高水平的胎儿血红蛋白(HbF)和轻微的临床表现。在此,我们报告了从伊朗西南部随机选取的81例镰状细胞患者中发现的β基因簇单倍型,其中包括47例镰状细胞贫血(SS)、17例镰状细胞性状(AS)和17例镰状/地中海贫血(S/thal)。我们在患者中发现了所有五种常见的典型单倍型以及五种非典型单倍型。除了四名具有纯合贝宁单倍型的患者外,未发现其他非洲典型单倍型处于纯合状态。阿拉伯 - 印度单倍型被发现是研究人群中最常见的单倍型。在SS患者中,这种单倍型作为纯合形式占51.1%,这些患者中69.1%的染色体具有阿拉伯 - 印度单倍型。班图A2是所有患者中第二常见的单倍型。SS患者的平均胎儿血红蛋白百分比(%HbF)为27.83,在纯合阿拉伯 - 印度单倍型中更高(30.40%),而AS患者的%HbF仅为1.20。阿拉伯 - 印度纯合单倍型中高比例的γG链(71.81)与两条染色体中均存在Xmn I位点相关。阿拉伯 - 印度单倍型作为主要单倍型的存在可能提示与沙特阿拉伯或印度之间存在基因流动。对正常人群进行更多的单倍型研究可以阐明我们人群中班图A2单倍型的高发生率。