Abstract

There are mainly 3 types of hemoglobinopathies that create a health problem in Turkey. These are ß-Thalassemia Major, sickle cell anemia and HbH disease. Molecular studies at DNA level indicated that frequent ß-thalassemia mutations are as follows: IVS 1-110 (%39.9)-IVS 1-6 (%13,8), IVS II-l (%12,1) and FSC 8 (%5,9). More than 30 different mutations are found to be associated with fi-thalassemia. Distribution of these mutations show no geographic pattern. Several different mutations and combination of some of the mutations were found to be in ß-thalassemia Intermedia. The most common combinations in HbH disease are 20.5 kb deletion and nondeletional (3.7 kb) type. Sickle cell anemia is common in southern part of Turkey. Molecular studies indicate that the majority of our patients have severe African type of HbS disease. Bone mar- row transplantation seems to cure these diseases. Hydroxyurea, Azacytidine, erythropoietin and argynine butyrate were shown to increase HbF level in some of the patients. Eradication of these disease can only be accomplished by prenatal diagnosis using DNA Technology. Prenatal diagnosis has been made in several centers in Turkey.