Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). As increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. For this, we first studied the incidence of KLF1 mutations in two Chin...

Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). Because increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. To do this, we first studied the incidence of KLF1 mutations in 2...

Molecular identification of affected alleles in the index family with rare mutation(s) and/or interaction(s) is an important prerequisite toward a proper genetic counseling. In Thailand, where more than 30% of the populations are heterozygotes for either α or β thalassemia mutation(s). More than 60 different thalassemia syndromes resulting from the interactions of these heterogeneous alleles ha...

Context: COVID-19 results in an imbalance between procoagulant and anticoagulant homeostatic mechanisms that could be complicated with thrombotic events. In β-thalassemia patients, the presence of comorbidities, iron overload, adrenal hypofunction, splenectomy, chronic hypercoagulable state might increase susceptibility to its severity. Evidence Acquisition: The search was conducted PubMed, Web...

Purpose To measure the retinal nerve fiber layer thickness (RNFLT) in children with β-thalassemia major and to compare with healthy controls. Methods A total of 47 patients with β-thalassemia major and 51 healthy controls were included. Each subject underwent a standard ophthalmological examination. RNFLT measurements were performed using optical coherence tomography. Results Mean age of th...

A cross sectional study was carried out at various hospitals of Faisalabad city. The aim of current study was to investigate the prevalence of β-thalassemia disease in hospital population related to age, consanguinity and anti-HCV antibody positivity. For this purpose, 300 patients were interviewed for the different parameters including specific type of β-thalassemia disease, their family histo...

problem owing to the wide prevalence of the disease in these regions.[1] β thalassemia is inherited as an autosomal recessive disorder, which results in reduction or absence in β globin chain.[2] Point mutation in the β-globin gene is the cause of β thalassemia inheritance in majority of cases, while short deletion in the same gene may occasionally be the cause. More than 200 mutations that res...

There are an estimated 45 million carriers of β-thalassemia trait and about 12,000-15,000 infants with β-thalassemia major are born every year in India. Thalassemia major constitutes a significant burden on the health care system. The burden of thalassemia major can be decreased by premarital screening and prenatal diagnosis. The success of prenatal diagnosis requires proper knowledge of spectr...

which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Hematological malignancies complicating β-thalassemia syndromes: a single center experience TO THE EDITOR: Only few reports have addressed the occurrence of hematological malignancies in patients suffering from β-thalassemia. We herein report two patients wi...

Objective: β-Thalassemia is one of the familiar single gene disorders which passes from parents to offspring. The prevalence of β-thalassemia trait varies from 1-14% in different regions of India. Every year almost 9000 β-thalassemic major children are being born in the Indian sub-continent. In the present study, the prevalence of β-thalassemia trait was checked and some screening tests were pe...