Beta Thalassaemia in Cyprus

Screening for beta thalassaemia

Platelet function in beta-thalassaemia major.

Abnormal platelet aggregation was found in eight (44%) of 18 patients with beta-thalassaemia major and transfusional iron overload. The aggregation defect bore no correlation with the degree of hepatic fibrosis, liver function tests, whether or not splenectomy had been performed, the degree of iron overload, haematocrit, platelet count, serum vitamin E level, or leucocyte ascorbate concentratio...

Urinary beta-aminoisobutyric acid excretion in thalassaemia.

The quantity of beta-aminoisobutyric acid (BAIB) excreted in the urine of patients with an intact spleen suffering from thalassaemia major appears to be proportional to the number of the circulating normoblasts and inversely proportional to the haemoglobin level. After splenectomy only minute amounts of BAIB are excreted. Transfusion constantly, but temporarily, reduces urinary excretion of bet...

Angioid streaks in beta thalassaemia minor.

We report what we believe to be the first recorded case of angioid streaks in a patient with beta thalassaemia minor. The occurrence of angioid streaks in a patient with a relatively normal iron balance and only very mild haemolysis may be explained by the combination of pregnancy with associated multiple transfusions in a myopic patient where an inherent defect in Bruch's membrane may exist.

Left ventricular function in beta thalassaemia major.

The left ventricular dimension and posterior wall dynamics were studied by computer assisted analysis of M mode echocardiography in 25 normal children (group 1) and 32 transfusion dependent children with beta thalassaemia major who had no evidence of heart failure (group 2). Twenty seven of those in group 2 remained well but five died of cardiac decompensation within 12 months. Compared with gr...