BACKGROUND AND OBJECTIVES The degree of globin chain imbalance and tissue hypoxia are important determinants of clinical severity in thalassemia syndromes. Thus phenotypic expression may be modified by interaction of alpha- and beta-thalassemia defects, level and type of hemoglobin synthesized and oxygen release to the tissues. We evaluated hematology, erythroid marrow activity and functional a...

Splicing mutations are common causes of beta-thalassemia. Some splicing mutations permit normal splicing as well as aberrant splicing, which can give a reduced level of normal beta-globin synthesis causing mild disease (thalassemia intermedia). For other mutations, normal splicing is reduced to low levels, and patients are transfusion-dependent when homozygous for the disease. The development o...

background beta-thalassemia is the most common hematology disease in human and leptin is one of the hormone that produce by adiposities cells. the purpose of this study was to investigate the relationship between serum leptin level and thyroid hormones in children with major beta-thalassemia. materials and methods this descriptive-cross sectional study was performed on 90 children aged 6-16 yea...

In five patients with sickle beta-thalassemia there was balanced alpha- and beta-globin synthesis in the bone marrow and decreased total beta-chain synthesis relative to that of alpha-chain in the peripheral blood. These findings are similar to those in patients with simple beta-thalassemia trait. Despite a range of hemoglobin concentrations from 6.8 to 12.5 g/100 ml in the patients with sickle...

Based upon the lack of clinical samples available for research in many laboratories worldwide, a significant gap exists between basic and clinical studies of beta-thalassemia major. To bridge this gap, we developed an artificially engineered model for human beta thalassemia by knocking down beta-globin gene and protein expression in cultured CD34+ cells obtained from healthy adults. Lentiviral-...

Objective: To determine the frequency of beta thalassemia trait among pregnant women presenting with anemia.
 Method: A cross sectional study was conducted in Gynecology & Obstetric department, district headquarters hospital Mardan from January 2019 to June 2020. This includes all who presented anemia and having age 15 45 years. Patients known hemoglobinopathies were excluded study. Co...

background the chronic genetic blood disorder, thalassemia, affects quality of life (qol) negatively. regarding this, if adolescences with thalassemia are treated well, they will grow into an adult who will have a good potential for participating in society. objectives: to determine the strongest predictor of qol, compare qol between the adolescents with beta-type major and their peers in abada...

Background Thalassemia is a common hereditary anemia in humans, and beta thalassemia represents a group of recessively inherited hemoglobin disorders first described by Cooley and Lee and characterized by the abnormal synthesis of β-globin chain. The homozygous state results in severe anemia, which needs regular blood transfusion. Although such treatments increase the patient's life span, a var...

We observed increased numbers of an infrequently referenced poikilocyte, the prekeratocyte, in iron deficiency anemia (IDA) compared with beta-thalassemia minor and anemia of chronic disease (ACD) and, therefore, chose to quantify these cells and other morphologic features in these anemias. Prekeratocytes were observed in 31 (78%) of 40 IDAs vs 11 (37%) of 30 beta-thalassemias (P = .001) and 5 ...

conclusions: this study showed acceptable sensitivity and specificity of qtcd and qtd in comparison to lvmi; it seems that standard ecg can be used for early diagnosis of cardiac involvement in asymptomatic patients with thalassemia major. patients and methods: in a case-control study, 60 patients older than ten years of age with thalassemia major who received regular blood transfusion and iron...