Preliminary data on preimplantation genetic diagnosis for hemoglobinopathies in Turkey

Abstract

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.