Cürük M Akif, Zeren Filiz, Genç Ahmet, Ozavci-Aygün Sezen, Kilinç Yurdanur, Aksoy Kiymet
Department of Biochemistry, Medical Faculty, Cukurova University, Adana, Turkey.
Hemoglobin. 2008;32(6):525-30. doi: 10.1080/03630260802508269.
Hemoglobinopathies are the most common genetic diseases in Turkey. The incidence of sickle cell trait is 10.0% and beta-thalassemia (beta-thal) trait is 3.7% in the Cukurova region of southern Turkey. Sickle cell anemia is prevalent in the Cukurova region, but beta-thal is seen all over the country. A prenatal diagnosis center was established in 1992 at Adana, Turkey, for the prevention of sickle cell anemia and beta-thal. Fifteen hundred and seventy-five fetuses were examined at the Cukurova University Hospital, Adana, Turkey. Three hundred and eighty-six fetuses were diagnosed as homozygous or compound heterozygous for sickle cell anemia and beta-thal. A total of 15 different beta-thal mutations were characterized in the parents. The incidence of the IVS-I-110 (G > A) mutation accounted for about 50.0% of the parents with beta-thal trait. Twenty-four different genotypes were observed in this study. A total of 286 fetuses were diagnosed with homozygous sickle cell disease, 57 fetuses were beta-thal homozygotes, 25 fetuses were compound heterozygotes with Hb S [beta6(A3)Glu-->Val, GAG > GTG], and 18 of the fetuses were double heterozygotes for beta-thal mutations.
血红蛋白病是土耳其最常见的遗传性疾病。在土耳其南部的库库罗瓦地区，镰状细胞性状的发生率为10.0%，β地中海贫血（β-地贫）性状的发生率为3.7%。镰状细胞贫血在库库罗瓦地区较为普遍，但β-地贫在全国都有发现。1992年在土耳其阿达纳建立了一个产前诊断中心，用于预防镰状细胞贫血和β-地贫。在土耳其阿达纳的库库罗瓦大学医院对1575例胎儿进行了检查。386例胎儿被诊断为镰状细胞贫血和β-地贫的纯合子或复合杂合子。在父母中总共鉴定出15种不同的β-地贫突变。IVS-I-110（G>A）突变的发生率约占β-地贫性状父母的50.0%。本研究观察到24种不同的基因型。共有286例胎儿被诊断为纯合镰状细胞病，57例胎儿为β-地贫纯合子，25例胎儿为Hb S[β6（A3）Glu→Val，GAG>GTG]的复合杂合子，18例胎儿为β-地贫突变的双重杂合子。
