Novel Βeta (β)-Thalassemia Mutation in Turkish Children.

ABSTRACT: Beta (β)-thalassemia is the most frequently observed hereditary blood disorder in the world. It is characterized by deficiency of hemoglobin β-globin gene and is also a profoundly heterogeneous both at the molecular and clinical level. In the case of β-thalassemia, there is reduced (β(+) type) or absent (β(o) type) synthesis of the beta chains of hemoglobin. β-Thalassemia clinically occurs in three main forms: major, intermedia and minor according to requirement of transfusion. The objective of this study was to evaluate β-thalassemia mutations in 89 patients ranging from 2 months to 16 years of age, who enrolled to Medical School Research and Training Hospital, Gaziantep University. The direct DNA sequence analysis was performed for mutation scanning of β-globin gene. 89 children with β-T

SUBMITTER: Ulasli M 

PROVIDER: S-EPMC4375154 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature