Beta-thalassemia mutation types of Anamur region

ABSTRACT p-THALASSEMIA MUTATION TYPES OF ANAMUR REGION Thalassemia is a group of related inherited disorders characterized by the reduced synthesis of one or more globin chains leading to severe anemia early in life. Thalassemia was not recognized as a clinical entity until 1925, when Thomas Cooley, a Detroit pediatrician, described a syndrome among children of Italian descent characterized by profound anemia, splenomegaly, and bony deformities. P-thalassemias are congenital anemias caused by mutations that reduce or abolish P-globin gene expression. With an estimated 250 million carriers worldwide P-thalassemia is a major genetic cause of morbidity and mortality. P-thalassemia is one of the most common genetic disorders in Turkey as it is several other Mediterranean countries. Consistent with the history of Turkey, which is situated at the meeting point of three continents and stands as a crossroad between Asia and Europe, the country has attracted migrations of different populations; thus it has etnic diversity unparalleled in any country of the Mediterranean region. This admixture is the probable cause of the large number of P-thalassemia mutations observed in Turkey. In this study; we investigated thalassemia mutations of P-thalassemia carriers in Anamur region. ARMS method was used for characterization of molecular mutations types. The IVS1-110 (68,5%) mutation is the most common P-thalassemia defect in Anamur region, decreasing order by IVS2-745 (11,1%), -30 (9,3%), IVS1-6 (3,7%), IVS2-1 (3,7%), Cd 8 (1,9%) and Fsc 5 (1,9%) mutations. We conclude that P-thalassemia mutations exist in Anamur region and P- thalassemia is a potential risk in same region. Key Words: P-thalassemia, ARMS, Prenatal Diagnosis. XI