Prenatal Diagnosis of Sickle Cell Anemia and -Thalassemia in Southern Turkey


CUERUEK M. A. , ZEREN F., GENC A., OZAVCI-AYGUEN S., Kilinc Y. , Aksoy K.

HEMOGLOBIN, vol.32, no.6, pp.525-530, 2008 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 6
  • Publication Date: 2008
  • Doi Number: 10.1080/03630260802508269
  • Title of Journal : HEMOGLOBIN
  • Page Numbers: pp.525-530

Abstract

Hemoglobinopathies are the most common genetic diseases in Turkey. The incidence of sickle cell trait is 10.0% and -thalassemia (-thal) trait is 3.7% in the Cukurova region of southern Turkey. Sickle cell anemia is prevalent in the Cukurova region, but -thal is seen all over the country. A prenatal diagnosis center was established in 1992 at Adana, Turkey, for the prevention of sickle cell anemia and -thal. Fifteen hundred and seventy-five fetuses were examined at the Cukurova University Hospital, Adana, Turkey. Three hundred and eighty-six fetuses were diagnosed as homozygous or compound heterozygous for sickle cell anemia and -thal. A total of 15 different -thal mutations were characterized in the parents. The incidence of the IVS-I-110 (G A) mutation accounted for about 50.0% of the parents with -thal trait. Twenty-four different genotypes were observed in this study. A total of 286 fetuses were diagnosed with homozygous sickle cell disease, 57 fetuses were -thal homozygotes, 25 fetuses were compound heterozygotes with Hb S [6(A3)GluVal, GAG GTG], and 18 of the fetuses were double heterozygotes for -thal mutations.