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对生活在马纳夫加特、塞里克和博兹泰佩(安塔利亚)的土耳其人的血红蛋白变体、β地中海贫血、葡萄糖-6-磷酸脱氢酶缺乏症和触珠蛋白类型的调查。

Survey on haemoglobin variants, beta-thalassaemia, glucose-6-phosphate dehydrogenase deficiency and haptoglobin types in Turkish people living in Manavgat, Serik and Boztepe (Antalya).

作者信息

Aksoy M, Dinçol G, Erdem S

出版信息

Hum Hered. 1980;30(1):3-6. doi: 10.1159/000153079.

DOI:10.1159/000153079
PMID:7353885
Abstract

135 Turks living in the vicinity of Antalya, a Turkish city on the Mediterranean coast, were studied for haemoglobin variants, beta-thalassaemia G-6-PD deficiency and haptoglobin types. The incidence of Hb-S was 2.3%. 8 beta-thalassaemic individuals with increased Hb-A2 and patient with 1 sickle cell-beta2-thalassaemia disease were found. The incidence of beta-thalassaemia with increased Hb-A2 was 6.7% and that of G-6-PD deficiency was 5.4%. The distribution of haptoglobin types in these people was very similar to that found in Turkish people in general; the only exception was the presence of Hp O in 2 individuals without haemolytic disorder. Gene frequencies of Hp1 and Hp2 were 0.26 and 0.7p4, respectively.

摘要

对居住在土耳其地中海沿岸城市安塔利亚附近的135名土耳其人进行了血红蛋白变异体、β地中海贫血、葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症和触珠蛋白类型的研究。血红蛋白S(Hb-S)的发生率为2.3%。发现8例血红蛋白A2(Hb-A2)升高的β地中海贫血患者以及1例镰状细胞-β2地中海贫血病患者。Hb-A2升高的β地中海贫血发生率为6.7%,G-6-PD缺乏症的发生率为5.4%。这些人的触珠蛋白类型分布与一般土耳其人的分布非常相似;唯一的例外是在2名无溶血性疾病的个体中发现了触珠蛋白O(Hp O)。触珠蛋白1(Hp1)和触珠蛋白2(Hp2)的基因频率分别为0.26和0.74。

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