The rare association of alpha thalassaemia and mental retardation has been described previously. Molecular studies of the alpha globin cluster in these cases have been heterogeneous, with some patients having large deletions while in others the alpha globin complex appears to be intact (non-deletional). The non-deletional cases form a distinct group whose features include severe mental retardat...

Treatment of chronic hepatitis C virus (HCV) infection in transfusion-dependent beta-thalassaemia major patients is complicated by existing hepatic siderosis and the fear of ribavirin-associated haemolysis. We evaluated the efficacy and side-effects of combination interferon-alpha (INF) and ribavirin therapy for HCV-infected thalassaemia patients. A total of 17 patients were enrolled (10 nonres...

Medical History Twenty patients (36%) had a splenectomy. Fourteen (25%) patients had developed gallstones and 7 had a cholecystectomy performed. Other medical complications of disease and iron overload are summarised in Table 1. In addition, 21 out of the 55 patients had a MRI T2* of the heart and liver performed. None had iron loading in the heart. Twenty (98%) patients had evidence of iron lo...

A case of haemoglobin Bart's hydrops syndrome was characterised in a Greek family with a history of three other fetuses with hydrops. Family studies showed that both the mother and father carried alpha-thalassaemia genes, and globin-chain synthesis analysis of the present fetus showed a total absence of alpha-chain production. The haemoglobin composition of the fetus was similar to that seen in...

Prenatal diagnosis of homozygous alpha thalassaemia was performed in eight successive patients at risk using DNA from uncultured amniotic fluid cells. The presence of alpha gene was determined by restriction endonuclease mapping and hybridisation with cloned alpha and beta globin probes. This method is reliable and may be performed at 16 weeks of gestation.

BACKGROUND & OBJECTIVES ATRX is a recessive X-linked intellectual deficiency (X-LID) gene causing predominately alpha-thalassaemia with a wide and clinically heterogeneous spectrum of intellectual deficiency syndromes. Although alpha-thalassaemia is commonly present, some patients do not express this sign despite the ATRX gene being altered. Most pathological mutations have been localized in tw...

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...

A hospital-based survey was undertaken to investigate the relationship between the incidence and severity of malaria infection and various red cell disorders in Myanmar. The mean parasitaemia levels of patients with alpha- or beta-thalassaemia trait or with severe glucose-6-phosphate dehydrogenase (G6PD) deficiency were lower than those of individuals with normal haemoglobin AA or with heterozy...