There is paucity of literature regarding the anaesthetic management of patients with thalassaemia intermedia. In this case study, the anaesthetic management and concerns in two children with thalassaemia intermedia aged eleven and nine years undergoing herniotomy and splenectomy respectively is reported. Both children had unanticipated difficulty in airway management and high intraoperative blo...

Endocrine dysfunctions related to iron overload, such as delayed puberty, short stature and hypogonadism, lead to major problems in thalassaemic patients. Leptin, a polypeptide with 167 amino acids produced by white adipose tissue, is a hormone which reduces appetite and increases energy consumption by affecting the central nervous system. Ghrelin, a peptide hormone produced by the stomach, sti...

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 ...

Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/β-thalassaemia and the paucity of l...

To demonstrate a method for using genetic epidemiological data to assess the needs for equitable and cost-effective services for the treatment and prevention of haemoglobin disorders. We obtained data on demographics and prevalence of gene variants responsible for haemoglobin disorders from online databases, reference resources, and published articles. A global epidemiological database for haem...

BACKGROUND The heritable haemoglobinopathy alpha(+)-thalassaemia is caused by the reduced synthesis of alpha-globin chains that form part of normal adult haemoglobin (Hb). Individuals homozygous for alpha(+)-thalassaemia have microcytosis and an increased erythrocyte count. Alpha(+)-thalassaemia homozygosity confers considerable protection against severe malaria, including severe malarial anaem...

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...