BACKGROUND Sickle cell anaemia is prevalent in sub Saharan Africa. While α+-thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described. OBJECTIVES To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the clinical and laboratory findings in these patients. METH...

Recent studies in Kenya and Ghana have shown that individuals who inherit two malaria-protective genetic disorders of haemoglobin-α(+) thalassaemia and sickle cell trait-experience a much lower level of malaria protection than those who inherit sickle cell trait alone. We have previously demonstrated that this can limit the frequency of α(+) thalassaemia in a population in which sickle cell is ...

BACKGROUND Deletions in the beta-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce. AIMS To use a recently available technique to investigate the frequencies and nature of beta-globin cluster deletions in Chinese. METHODS 106 subjects with phenotypes of thalassaemia or HPFH and sus...

BACKGROUND & OBJECTIVES The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including β-thalassaemia major and sickle cell anaemia (SCA). The present study was undertaken to analyse β-thalassaemia as well as SCA patients for the single nucleotide polymorphism (SNP), rs11886868 (T/C) in BCL11A gene and to evaluate the association betwe...

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...

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...

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...