A beta-thalassemia carrier with normal sequence within the beta-globin gene [letter]

Beta-Thalassemia Carrier Detection by NESTROFT

Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study

INTRODUCTION The beta thalassemias are common genetic disorders in Turkey and in this retrospective study our aim was to evaluate β-globin chain mutations and the phenotypic severity of β-thalassemia patients followed-up in our hospital, a tertiary center which serves patients from all regions of Turkey. MATERIALS AND METHODS 106 pediatric patients were analysed for β-globin gene mutations by...

Co-Inheritance of Beta & Delta-Globin Gene (HbYialousa) Mutations in an Iranian β-Thalassemia Carrier

Introduction: Beta-thalassemia is characterized by absence or reduced synthesis of the β-globin. Carriers of β-thalassemia, typically have microcytic hypochromic anemia and elevated hemoglobin HbA2 and normal HbF level. On the other hand carriers of severe alpha-thalassemia also have similar CBC parameters to that of β-thalassemia with normal HbA2 level. Co-presence of mutations in the β-globin...

Wide Spectrum of Mutations in the Beta-Globin Gene Causing Beta-Thalassemia Major in Southwest Iran

Background and Aim: Beta-thalassemia ( -thalassemia) is characterized by the reduced synthesis of the hemoglobin beta chain. Nowadays, more than 200 disease-causing mutations in beta-globin ( -globin) gene have been identified. Betathalassemia is the most common monogenic disease worldwide and one of the widespread hereditary disorders in Iran. Considering the vast spectrum of beta-thalassemia ...

Beta-thalassemia unlinked to the beta-globin gene in an English family.

An inherited hypochromic microcytic anemia transmitted in an autosomal manner has been observed in three generations of an English family. Affected members had the hallmarks of heterozygous beta-thalassemia, ie, elevated levels of hemoglobin A2 and imbalanced globin chain synthesis. However, despite extensive sequence analysis, no mutations could be found in or around the beta-globin genes of e...