BACKGROUND β-Thalassemia is the most prevalent genetic disorder in India. Its traits and coinheritance vary from mild to severe conditions, resulting in thalassemia minor, intermediate, and major, depending upon many factors. PURPOSE The objective of this study was to identify the incidence of β-thalassemia traits, their coinheritance, and mutations, as well as to support the patients already...

background: approximately 180 mutations have been described in β-thalassemia worldwide with specific spectrum in each ethnic population. this study determines the spectrum and the frequency of β-thalassemia mutations in patients with β-thalassemia trait and sickle cell-β-thalassemia.   methods: fifteen compound heterozygous sickle cell thalassemia (sct) and 23 β-thalassemia trait patients were ...

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...

β-thalassemia, a congenital genetic hematological disorder characterized by the decrease or absence of β-globin chains, leads to in levels Hemoglobin A. The affected individuals can be categorized into two cohorts based on transfusion dependency: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent (NTDT). Remarkably, despite primary pathology lying chain depletion, β-thalassem...

Background: Beta thalassemia gene mutations are among common mutations in southwest Iran. However, Hemoglobin E (Hb E) and Hb E/β⁰ thalassemia account for a small number of hemoglobinopathies in Iran. This is the first study to directly address the existence of Hb E and consequently Hb E/β⁰ thalassemia in southwest Iran. Methods: This retrospective study discovered seven cases of Hb E/β⁰ thal...

BACKGROUND Thalassemia, which may be due to point mutations, translocations, and deletions involving the α or βglobin gene, is the most prevalent single gene disorder in Iran.This study aims to calculate the α/β ratio in normal cases, α- and β-thalassemia carriers by RT-PCR, real-time PCR, and in vitro globin chain synthesis (GCS) in order to establish the most accurate technique to distinguish...

PURPOSE Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to ret...

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 The Gγ-158(C→T) polymorphism plays important function in the clinical variability of HbE/β-thalassemia. There is little known about Gγ-158(C→T) polymorphism in HbE/β-thalassemia major in Southern China. This study aimed to explore the association between HbE/β-thalassemia major and this polymorphism in Southern China. METHODS AND RESULTS The frequency of the Gγ-158(C→T) polymorphis...

BACKGROUND Prevention and control of thalassemia requires simple, rapid, and accurate screening tests for carrier couples who are at risk of conceiving fetuses with severe thalassemia. METHODS Single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting (HRM) analysis were used for the identification of α-thalassemia-1 Southeast Asian (SEA) and Thai type deletions and β-th...