Thalassemia is a congenital hemolytic anemia prevalent in Asian and Mediterranean races. The homozygous state results in thalassemia major or Cooley's anemia, and such patients are transfusion-dependent. A less severe syndrome, thalassemia intermedia, may be due to compound heterozygosity for /3-thalassemia and /3 variant (e.g., hemoglobin E [HbE]) genes and is characterized by anemia, jaundice...

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...

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...

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...

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...

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...

Background: This study explores thalassemia patients' perceptions concerning the effectiveness of conventional therapies for Thalassemia healthcare. Method: The semi-structured interviews were audiotaped, transcribed verbatim, and translated into English. Results: Nearly all patients reported to have relied on treatment methods treat reduce severity their disease. Few not comply with procedures...

Background: Transfusion is the mainstay treatment of patients with thalassemia major and occasionally in thalassemia intermediate. Alloimmunization is an unwanted side effect of blood transfusion. The present study intended to determine the frequency of alloimmunization in patients with β- thalassemia major and thalassemia intermediate in Southwest Iran. Patients and Methods: This was a cross-...

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...