Aluoch J R, Kilinç Y, Aksoy M, Yüregir G T, Bakioglu I, Kutlar A, Kutlar F, Huisman T H
Br J Haematol. 1986 Sep;64(1):45-55. doi: 10.1111/j.1365-2141.1986.tb07572.x.
Haematological and genetic observations have been made on 71 SS Eti-Turk patients and their relatives from Cukurova (southern Turkey) and of immigrant families in The Netherlands. Similar data were collected for 25 Black patients and their relatives from Surinam, Netherlands Antilles, and Kenya. Haematological and clinical results were the same for both groups; the haemolytic anaemia in the Turkish patients was as severe as in the others. Haplotyping, involving nine restriction sites, identified haplotype 19 (Antonarakis et al, 1984) as the major type among the Eti-Turks; this chromosome has previously primarily been observed among SS patients from West Africa. The suggestion that the beta S-chromosome among Eti-Turks originates from that area is supported by a relatively high incidence of alpha-thalassaemia-2 (the 3.7 kb deletion), also frequently present in the Black population of West Africa, and by the absence of other major haplotypes, such as types 20 and 3, characteristic for the beta S-chromosome in the population of Central Africa and Kenya, and in Senegal, respectively. The Saudi Arabian type of beta S chromosome in association with the haplotype 19 beta S chromosome was present in only one Eti-Turk patient; this 30-year-old female was mildly affected and exhibited a high level of fetal haemoglobin.
对来自土耳其南部库库罗瓦的71名埃蒂 - 土耳其患者及其亲属以及荷兰移民家庭进行了血液学和遗传学观察。还收集了来自苏里南、荷属安的列斯群岛和肯尼亚的25名黑人患者及其亲属的类似数据。两组的血液学和临床结果相同;土耳其患者的溶血性贫血与其他患者一样严重。涉及9个限制性位点的单倍型分析确定单倍型19(Antonarakis等人,1984年)是埃蒂 - 土耳其人中的主要类型;这条染色体以前主要在西非的镰状细胞贫血患者中观察到。埃蒂 - 土耳其人中的βS染色体起源于该地区的推测得到了以下证据的支持:α地中海贫血-2(3.7 kb缺失)的发病率相对较高,这在西非黑人人群中也经常出现;并且没有其他主要单倍型,如分别在中非和肯尼亚人群以及塞内加尔人群中βS染色体特有的20型和3型。与单倍型19βS染色体相关的沙特阿拉伯型βS染色体仅在一名埃蒂 - 土耳其患者中出现;这名30岁的女性症状较轻,胎儿血红蛋白水平较高。