Prenatal diagnosis of sickle cell anemia and ß-thalassemia in southern Turkey

PubMedID: 19065329Hemoglobinopathies are the most common genetic diseases in Turkey. The incidence of sickle cell trait is 10.0% and ß-thalassemia (ß-thal) trait is 3.7% in the Cukurova region of southern Turkey. Sickle cell anemia is prevalent in the Cukurova region, but ß-thal is seen all over the country. A prenatal diagnosis center was established in 1992 at Adana, Turkey, for the prevention of sickle cell anemia and ß-thal. Fifteen hundred and seventy-five fetuses were examined at the Cukurova University Hospital, Adana, Turkey. Three hundred and eighty-six fetuses were diagnosed as homozygous or compound heterozygous for sickle cell anemia and ß-thal. A total of 15 different ß-thal mutations were characterized in the parents. The incidence of the IVS-I-110 (G > A) mutation accounted for about 50.0% of the parents with ß-thal trait. Twenty-four different genotypes were observed in this study. A total of 286 fetuses were diagnosed with homozygous sickle cell disease, 57 fetuses were ß-thal homozygotes, 25 fetuses were compound heterozygotes with Hb S [ß6(A3)Glu›Val, GAG > GTG], and 18 of the fetuses were double heterozygotes for ß-thal mutations. Copyright © Informa Healthcare USA, Inc.Çukurova Üniversitesi: TF2005YL2, TF2001U35, TF2003LTP8, TF2002BAP85The authors thank the following scientists from the Obstetrics and Gynecology Clinic at Çukurova University Hospital, Adana, Turkey: Professor Dr. Fatma T. Ozgunen, Professor Dr. Cuneyt Evruke and Professor Dr. S. Cansun Demir for the chorionic villus sampling (CVS). This project was supported by Çukurova University Research Grants TF2001U35, TF2002BAP85, TF2003LTP8 and TF2005YL2. This study was presented at the 7th Balkan Meeting on Human Genetics, Skopje, Republic of Macedonia, August 31–September 2, 2006