Prevention of Hemoglobinopathies in Turkey

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.