Zeren Filiz, Genç Ahmet, Cürük Mehmet Akif
Department of Biochemistry, Medical Faculty, University of Cukurova, Adana, Turkey.
Hemoglobin. 2007;31(2):273-7. doi: 10.1080/03630260701297238.
Hemoglobinopathies are the most common genetic diseases in Turkey. Sickle cell anemia is prevalent in the Cukurova region but beta-thalassemia (thal) is seen all over the country. The incidence of sickle cell trait is 10% and beta-thal trait is 3.7% in this region. The families at risk for hemoglobinopathies have come to our center for prenatal diagnosis since 1992. In 15 years, 1,593 fetuses were examined. Four hundred and ten fetuses were found to be homozygous or compound heterozygous for sickle cell anemia and beta-thal. Some mothers had affected fetuses several times. Preimplantation genetic diagnosis (PGD) is an option to avoid the termination of a pregnancy. Studies for PGD of sickle cell anemia were done at Cukurova University Hospital, Cukurova, Adana, Turkey.
血红蛋白病是土耳其最常见的遗传性疾病。镰状细胞贫血在库库罗瓦地区较为普遍，但β地中海贫血在全国都有发现。该地区镰状细胞性状的发病率为10%，β地中海贫血性状的发病率为3.7%。自1992年以来，有血红蛋白病风险的家庭来到我们中心进行产前诊断。15年间，共检查了1593例胎儿。发现410例胎儿为镰状细胞贫血和β地中海贫血的纯合子或复合杂合子。一些母亲曾多次怀有患病胎儿。胚胎植入前遗传学诊断（PGD）是避免终止妊娠的一种选择。土耳其阿达纳库库罗瓦大学医院对镰状细胞贫血的胚胎植入前遗传学诊断进行了研究。
