Prevention of hemoglobinopathies in Turkey

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Mehmet Akif Çürük *
Erdinç Yalın
Kıymet Aksoy
(*) Corresponding Author:
Mehmet Akif Çürük | akif@cu.edu.tr

Abstract

Hemoglobinopathies are the most common genetic disorders in Turkey. The incidence of beta thalassemia and sickle cell trait (HbAS) is 2.0% and 0.3% respectively. In addition to HbS, 51 abnormal hemoglobins and 42 different beta thalassemia mutations have been detected by DNA analysis. In Turkey, beta thalassemia and sickle cell anemia cause major health problems. For thirty years, screening programs for carriers, genetic counseling and prenatal diagnosis have sought to prevent hemoglobinopathies. In 1983, the first prenatal diagnosis center was established for sickle cell anemia and beta thalassemia at Hacettepe University, Ankara. After many populationscreening studies, a law was passed in 1993 by the Turkish Parliament for the eradication of hemoglobinopathies. Forty-one premarital screening centers were set up by the Ministry of Health in the 33 provinces where most of the transfusion-dependent thalassemic patients live. The mothers at risk for hemoglobinopathies were given genetic counseling and directed to prenatal diagnosis centers. Since 1990, four prenatal diagnosis centers have been established at university hospitals in Adana, Antalya, Istanbul and Izmir. A total of 5255 prenatal diagnoses have been made for sickle cell anemia and beta thalassemia in 5 centers; 1338 fetuses have been diagnosed as homozygous or compound heterozygotes for hemoglobinopathies. Prenatal diagnosis was performed on families who had decided to terminate the pregnancy if it were to be found that the fetus was affected.

 

血红蛋白病是土耳其最为常见的遗传性疾病。乙型地中海贫血和镰状细胞性状(HbAS)的发病率分别为2.0%和0.3%。除HbS外,已通过NDA分析检测出51种异常血红蛋白和42种乙型地中海贫血突变基因。在土耳其,乙型地中海贫血和镰状细胞性贫血会导致严重的健康问题。30年来,一直在为病原携带者提供筛选项目,以及遗传咨询和产前诊断服务,以预防血红蛋白病的发生。

1983年,首家研究镰状细胞性贫血和乙型地中海贫血的产前诊断中心在安卡拉哈斯特帕大学成立。经过多次人群筛查研究后,土耳其议会于1993年通过有关根除血红蛋白病的法律。随后,卫生部先后在33个省份成立41个婚前检查中心,许多靠输血维系生命的地中海贫血病患者生活在这些省份。检查中心为易患血红蛋白病的母亲提供遗传咨询,并指导其前往产前诊断中心。自1990年以来,已在亚达那、安塔利亚、伊斯坦布尔和伊兹密尔等地大学的附属医院成立了四个产前诊断中心。

目前,5个中心已进行了5255例镰状细胞性贫血和乙型地中海贫血产前诊断,其中1338个胎儿诊断为血红蛋白病纯合子或复合型异型合子。若某些家庭发现胎儿受到影响,决定终止妊娠,则必须接受产前诊断。


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