Prenatal Diagnosis for β-Thalassemia Major in the Iranian Province of Hormozgan

Pooneh Nikueiab*, Valeh Hadavic, Minoo Rajaeia, Mozhgan Saberia, Fozieh Hajizadea & Hossein Najmabadica Medical Genetic Counseling Center, Social Welfare Organization, Bandarabbas, Iranb Dr. Nikuei Medical Genetic Counseling Center, Bandarabbas, Iranc Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran† Correspondence: Pooneh Nikuei, Genetic Counseling Center, Social Welfare Organization of Bandarabbas, Naser Boulevard, Vahdat Street, Bandarabbas, 79149-36939, Iran, +98-761-333-9813, +98-761-333-4285 p_nik2000@yahoo.comβ-Thalassemias are a group of heterogenous recessive disorders common in many parts of the world. Despite the great advances in the treatment of thalassemia, there is so far no cure, but perhaps bone marrow transplantation (BMT) is a possibility. Prevention, using prenatal diagnosis and selective abortion in the cases where the fetus is found to be affected, should be considered as a sensible alternative. During the past 5 years, 112 couples have been referred to our Center for detection of their β-thalassemia (β-thal) carrier status. In this group, common and rare mutations were detected. Of these, 106 couples (94.6%) came for counseling during pregancy and six (5.4%) came before becoming pregnant. Prenatal diagnosis was performed for the 106 couples at risk. Fetal DNA was obtained from both chorionic villus sampling (CVS) (99) and amniotic fluid (). Using reverse hybridization, 64 (60.4%) were found to be heterozygous for a β-thal mutation and 24 (22.6%) were normal. Eighteen (17.0%) were found to carry an affected fetus and these pregnancies were terminated.