OBJECTIVE The objective was to evaluate the beta-globin gene mutations and polymorphisms in cell-free fetal DNA in the early first trimester (7-9th weeks' gestation) for the prediction of thalassemia risk at chorionic villous sampling (CVS). STUDY DESIGN Beta-globin gene mutations and polymorphisms were analyzed in 97 carrier families and 100 control couples. Using conventional PCR-DGGE we ca...

Hemoglobinopathies are a group of hereditary hemolytic anemia characterized by qualitative (sickle cell disease) or quantitative (thalassemia) defects in the alpha or beta-globin chain synthesis. Homozygotes or compound heterozygotes for the mutated alpha or beta-globin genes can cause severe anemia at an early age. These pathologies are common in some areas (Mediterranean, Africa, India, and S...

BACKGROUND Hemoglobinopathies are priority genetic diseases for prevention programs. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis for carrier couples. METHODS As a model, we designed a protocol based on the LightCycler technology to screen for a spectrum of beta-globin gene mutations in the Greek population. Design wa...

The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-110, β+IVSI-6 and β0IVSI-1. Several molecular techniques for the detection of point mutations have been developed based on the amplification o...

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 ...

INTRODUCTION The frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary. MA...

Background: The double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. In addition, definite characterization of co-inheritance of αand β-thalassemia heterozygous carriers may change the process of genetic counseling. Materials and Methods: An Iranian couple with low hematological indices was analyzed for α-globin gene deletions using multiple...

INTRODUCTION β-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey and in this retrospective study our aim was to determine the frequency of β-thalassemia and hemoglobinopathies in Adana, which is one of the biggest cities located in the southern part of Turkey. MATERIAL AND METHODS Data from 3000 individuals admitted to Seyhan Hereditary Blood Disorders Center in Adana ...

BACKGROUND Co-inheritance of β- and δ-globin mutations in Iran is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of α- and β-thalassemia in screening programs. Here we report the co-inheritance of β- and δ-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A₂ (HbA₂) level. METHODS Genomic DNA extraction, ampl...