The inherited diseases of hemoglobin have remarkable phenotypic variability because of genetic modifiers necessitating medical intervention at various stages of disease. Genotype–phenotype relationship is crucial in this regard. So three year retrospective study of biochemical pattern of Hemoglobinopathies and Thalassemias and their clinical manifestations was done in a cohort of 689 patients i...

BACKGROUND Iron Deficiency Anemia (IDA) is an important health problem all around the world especially in developing countries. In the Mediterranean countries another prevelant reason of anemia is Thalassemia. Certain strategies had been established as a government policy to reduce prevalence in North Cyprus, such as pre-marital screening of Thalassemia. The prevalence of thalassemia trait has ...

Based on the mechanism of pathophysiology, thalassemia major or transfusion-dependent thalassemia patients may have an increased risk of developing organic erectile dysfunction resulting from hypogonadism. However, there have been few studies investigating the association between erectile dysfunction and transfusion-naive thalassemia populations. We constructed a population-based cohort study t...

Premarital screening (PMS) can be an important tool to detect of carriers of hemoglobinopathies. The aim of this study was to assess the knowledge and attitude of premarital couples about Thalassemia before PMS in Denizli province. This cross-sectional study was conducted between August-December 2013. The target population was all premarital couples who applied to the City Hemoglobinopathy Cont...

Genetic factors influencing Hb F content in adult red blood cells include β-thalassemia genotypes, co-inheritance of α-thalassemia traits and single nucleotide polymorphisms (SNPs). Genotyping of α- and β-thalassemia and five SNPs in β-globin gene cluster previously identified in genome-wide association studies as being markers of elevated Hb F in β-thalassemia were performed in 81 subjects dia...

BACKGROUND In the past two decades, a large-scale survey of hemoglobinopathies and thalassemia was carried out in mainland China, involving nearly one million people in 28 provinces. The incidences of hemoglobin (Hb) variants, alpha-thalassemia and beta-thalassemia were 0.33%, 2.64% and 0.66%, respectively. The chemical structural analysis identified 67 Hb variants. Among them, 20 are new varia...

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main...

Beta-thalassemia is one of the most prevalent autosomal disorders in the world. Mutations in the HBB gene underlie deficiencies in hemoglobin production, which can interfere with oxygen delivery resulting in wide range of disease severity. Although >535 mutations have been characterized in the HBB gene, beta-thalassemia is broadly classified into three groups, based on clinical severity: beta-t...

Background and aims: Thalassemia is one of the most prevalent hematologic disorders worldwide. Thalassemia is the most common inherited anemia and genetic disease. Diabetes mellitus and insulin resistance is one of the major endocrine problems in major thalassemia patients. This study was done to evaluate the association of serum γinterferon and IL-10 concentrations with insulin resistance in s...

Using a mouse monoclonal antibody (mAb) (“2D4”) with high specific reactivity to Hb Bart’s and a rabbit polyclonal antibody (“RPB”) with high reactivity to Hb Bart’s but low reactivity to HbF, an ELISA assay was developed for the quantification of Hb Bart’s in hemolysates of peripheral blood. In the preliminary study, hemoglobin solutions containing 4,000 μg/mL of hemoglobin were analyzed for t...