Author/Authors :
Hazan, F Dr. Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi - Tıbbi Genetik, Turkey , Dursun, G Ege Üniversitesi - Mühendislik Fakültesi - Biyomühendislik Bölümü, Turkey , Itırlı, G Ege Üniversitesi - Mühendislik Fakültesi - Biyomühendislik Bölümü, Turkey , Yalaza, C Ege Üniversitesi - Mühendislik Fakültesi - Biyomühendislik Bölümü, Turkey , Onay, H Ege Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey , Akercan, F Ege Üniversitesi - Tıp Fakültesi - Kadın Hastalıkları ve Doğum Anabilim Dalı, Turkey , Özkınay, F Ege Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey
Abstract :
Beta thalassemia is a hereditary blood disease that is characterized by reduction or absence of beta-globin chain synthesis. The most common mutation, which causes beta thalassemia and is an important health problem in Turkey, was IVS I-110 in the HBB gene. The first step in prenatal diagnosis is to show through genetic analysis that both parents are carriers of the disease. The method for prenatal diagnosis of the disease is multiplying the fetal DNA by making use of the Polymerase-Chain-Reaction and mutation analysis of the HBB gene. Presented in this case study are: father and mother, both carriers of the disease, mother pregnant with triplets, one of the fetuses prenatally diagnosed to have homozygote beta-thalassemia and the other two fetuses with heterozygote beta- thalassemia. The sick fetus has been eliminated through selective feticide. This family is presented in order to emphasize the importance of prenatal diagnosis of beta thalassemia as a major disease, which has a high carrier ratio in our country, through molecular genetic analysis is possible and also to show a way to eliminate sick fetuses in complex cases such as triplet pregnancies.
