Nineteen Years Study of Beta-Thalassaemia in Slovakia

Nineteen years study of beta-thalassaemia in Slovakia.

BACKGROUND Beta-thalassaemia is a congenital disorder caused by point mutations in a haemoglobin beta-globin chain. The heterozygous form produces microcytosis and normal iron levels, however, haemoglobin electrophoresis shows elevated amounts of haemoglobin A2 and eventually foetal haemoglobin F as well. METHODS Between 2005-2011, in three centres in Slovakia, carriers of beta-thalassaemic g...

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.