Reactivation of fetal haemoglobin (HbF) expression is an effective way to treat β-thalassaemia and sickle cell anaemia. In the present study, we identified a novel GATA zinc finger domain-containing protein 2A (GATAD2A) mutation, which contributed elevation HbF ameliorated clinical severity in patient with β-thalassaemia, by targeted next-generation sequencing. Knockout GATAD2A led significant ...

Increasing global migration has resulted in wider dispersal of people at risk of hereditary anaemias. As a result, haemoglobinopathies are becoming increasingly prevalent in countries where these diseases are not endemic. The treatment of thalassaemia major and intermedia has traditionally depended on preventing undesirable outcomes of disease, using transfusion therapy along with iron chelatio...

PURPOSE The most important complication encountered in patients with b-thalassaemia major is degenerative fibrosis developing as a result of iron accumulation in myocardial tissue. Dysfunction pursues this accumulation. Recently, presence of fragmented QRS (fQRS) in ECG has been regarded as a predictor of myocardial fibrosis. We aimed in our study to investigate the frequency with which fQRS de...

Pain is not a symptom generally associated with thalassaemia. However, providers have noted increasing patient reports of pain, creating an impetus for this prospective, observational assessment of pain in thalassaemia patients. The primary study goals were to assess pain prevalence, severity, location, and potential risk factors. This was a multicentre, prospective study of thalassaemia patien...

Antenatal diagnosis was carried out in a pregnancy at risk for beta-thalassaemia major/intermedia, resulting from the Lepore/ beta-thalassaemia genotype, by globin chain synthesis analysis on fetal blood obtained by placentocentesis at 19 weeks' gestation. As there was no radioactive incorporation in the beta-region, the fetus was considered to be a Lepore/ beta-thalassaemia genetic compound an...

The prevalence of the BamH I site 3' to the beta globin gene in Chinese people was determined in 123 normal subjects, 40 patients with heterozygous beta thalassaemia, and 25 patients with homozygous beta thalassaemia. The site was present in 71.1% and absent in 28.9% of the chromosomes carrying normal beta genes. All 25 patients with beta thalassaemia major had the site. This BamH I polymorphis...

Introduction. Transfusion Transmitted Infections (TTIs) continue to be a major risk in transfusions in many parts of the world. The transfusion-dependent β-thalassaemia patients are particularly at risk of acquiring TTIs. The current study was undertaken to estimate the prevalence of TTIs in transfusion-dependent β-thalassaemia patients. Material and Methods. A cross-sectional study of 1253 mul...

ABSTRACT BACKGROUND In beta thalassaemia major multiple blood transfusions, ineffective erythropoiesis and increased gastrointestinal iron absorption lead to iron overload in the body. Iron overload impairs the immune system, placing patients at greater risk of infection and illness. Iron overload can be determined by serum ferritin measurement. OBJECTIVE The aim of the present study is to...

BACKGROUND & OBJECTIVE beta-thalassaemia is a genetic disorder and an important health problem around the world. Quantitative haemoglobin A(2) (HbA(2)) levels are used for the diagnosis of beta-thalassaemia. The conventional methods are high performance liquid chromatography (HPLC), electrophoresis, and microcolumn chromatography techniques. We established a fast protein liquid chromatography (...

Fatal acute splenic sequestration crisis in an adult patient with sickle cell-beta+ thalassaemia is described. To our knowledge fatal splenic sequestration in adult sickle cell-beta thalassaemia has not been previously reported.