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 Çukurova region but β-thalassemia (thal) is seen all over the country. The incidence of sickle cell trait is 10% and β-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 β-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 Çukurova University Hospital, Çukurova, Adana, Turkey.

Keywords:

• Sickle cell anemia
• β-Thalassemia (thal)
• Prenatal diagnosis
• Preimplantation genetic diagnosis (PGD)

Notes

*Presented at the Second Titus H.J. Huisman Memorial Symposium, Adana, Turkey, May 8–9, 2006.