Hemoglobinopathies are common genetic abnormalities causing health problems in Turkey. Beta thalassemia and sickle cell anemia constitute the majority of hemoglobin disorders. The overall frequency of b thalassemia is 2%; its frequency varies as high as 13% in some parts of the country. Sickle cell anemia (HbSS) is prevalent among Eti-Turks living in Cukurova region, in Southern part of Turkey. The frequency of sickle cell trait (HbAS) ranges from 0.5 to 44.2%. A couple with b tahalassemia or sickle cell trait has 25% probability of having an affected baby in each pregnancy. The prevention of hemoglobinopathies can be achieved through screening of carriers, genetic counseling and prenatal diagnosis (PND).

Thirty-three premarital screening centers were settled up in cities, where there is a high incidence of hemoglobinopathies by the Ministry of Health. There are four PND centers at university hospitals in Turkey. A total of 2547 fetuses were diagnosed in these centers. Two hundred and twenty-one prenatal diagnoses were performed and 54 fetuses were aborted at  the hospital of Akdeniz University. One-hundred and twelve fetuses were diagnosed at Molecular Genetic Laboratory, Bogazici University, and 27 of them were affected. A total of 721 fetuses were diagnosed at the Children’s Hospital of Hacettepe University. One hundred and fifty-five fetuses were homozygous or compound heterozygotes for hemoglobinopathies. Fifteen hundred and ninety-three prenatal diagnoses were performed at the Hospital of Cukurova University. Four hundred and ten fetuses were diagnosed as homozygous or compound heterozygotes for b tahalassemia and sickle cell anemia. Three fourth of the cases were performed for sickle cell anemia, and the rest was for b tahalassemia and rare hemoglobin variants.

Three hundred and sixty-five couples applied more than once for PND in Cukurova region during the last decade. From these families, 272 families applied twice; 67 families applied three times, 22 families applied four times, 3 families applied five times and one family applied 6 times for prenatal diagnosis. Besides, from 21 couples, 11 pregnant women with sickle cell anemia whose husbands were carriers, and 10 men with sickle cell anemia whose wives were carriers, applied for prenatal diagnosis. Two of these couples have applied four times; the first family had 1 fetus with HbSS and 3 fetuses with HbAS, and the second family had vice versa. One couple has applied three times, and all the fetuses had HbSS. Five couples have applied twice for prenatal diagnosis.  Two of these couples both had two fetuses with sickle cell trait (HbAS), and three couples had fetuses with HbSS in each pregnancy.

Although prenatal diagnosis has reduced the number of affected births, pregnancy termination is still unacceptable for many couples. Pre-implantation genetic diagnosis (PGD) is an option to avoid the termination of an affected fetus. Due to the fact that PGD is an alternative to PND, preliminary studies were done at Cukurova University Hospital. Following in-vitro fertilization, 9 human embryos were biopsied, and a single cell was used for nested PCR for amplification of beta globin gene. PCR based RFLP was optimized for pre-implantation genetic diagnosis of sickle cell anemia.