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...

Families who were at risk of producing a child with thalassaemia major were studied to determine the sequential effects on their reproductive behaviour of knowing the risk and, subsequently, of knowing that antenatal diagnosis was available. Knowing the risk caused them virtually to stop reproduction and to seek termination of 70% of pregnancies, most of which were accidental. The introduction ...

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...

AIMS To determine the clinical management of cardiovascular complications, and the extent of cardiac left ventricular (LV) involvement, in a large cohort of homogenously treated patients with thalassaemia major. METHODS AND RESULTS Participants were ≥ 16 years of age and diagnosed with thalassaemia major requiring regular blood transfusions since the age of 2. Patient characteristics, clinica...

OBJECTIVE To provide a synopsis of current thalassaemia major patient care in Hong Kong. DESIGN Retrospective study. SETTING All haematology units of the Hospital Authority in Hong Kong. PATIENTS All patients with thalassaemia major with regular transfusion. RESULTS To date, there were 363 thalassaemia major patients under the care of the Hospital Authority. Prenatal diagnosis has helpe...

Haemochromatotic cardiomyopathy is the main cause of morbidity and mortality in patients with beta thalassaemia major. Once congestive heart failure develops most patients die in a few months. Congestive heart failure was reversed and echocardiographic findings were restored to normal in a 24 year old woman with beta thalassaemia who resumed treatment with chelation therapy (desferrioxamine).

AIMS To evaluate prospectively the left ventricular performance in thalassaemia major and sickle cell disease using comprehensive echocardiographic imaging including acoustic quantification during early childhood. METHODS AND RESULTS Twenty-three patients with thalassaemia and 26 patients with sickle cell disease underwent echocardiographic examination including M-mode, 2-D, Doppler and acous...

Haemoglobinopathies are the most common monogenic inherited disorders of erythrocytes. Carriers of haemoglobinopathies are partially protected against morbidity and mortality of falciparum malaria, resulting in their higher prevalence in tropical countries. Estimates in India show 3–17% prevalence of β-thalassaemia, but its magnitude in the Central-East coast of India, especially in Orissa is n...