We have characterized HLA antigens in subjects with beta-thalassaemia trait with and without iron overload. 50% of the cases with iron overload (v 18% of those without iron overload, P less than 0.01) are carriers of HLA-A3, the HLA antigen tightly linked to the IH allele. Thus, in a considerable number of these subjects, beta-thalassaemia and IH coexist. This association exerts a synergistic effect in inducing iron overload.

SUMMARY Thirty two unrelated Italian subjects with idiopathic haemochromatosis were studied. HLA-A3 was present in 26 of them (81% v 22% in controls; p < 0 001) and HLA B7 in eight (28% v 9%; p < 0-01). There was no important association between idiopathic haemochromatosis and HLA B14. Subdividing the patients on the basis of their regional origin a noticeably higher prevalence ofHLA Bw35 in patients with idiopathic haemochromatosis from north eastern Italy was found than in those from Lombardy, or in the controls; there were no differences in the incidence of HLA A3 and B7 between patients with idiopathic haemochromatosis from different areas.

Background: Sofosbuvir (SOF)-based regimens have been associated with renal function worsening in HCV patients with estimated glomerular filtration rate (eGFR) ≤ 45 ml/min, but further investigations are lacking.

Basic ferritin (liver-type) was measured in erythrocytes of subjects with α-and β-thalassemia trait, thalassemia intermedia and Cooley’s disease, and compared with normals and patients with abnormal iron metabolism without erythrocyte metabolic defect (iron deficiency anemia and idiopathic hemochromatosis). In all the thalassemic syndromes considered, erythrocyte ferritin was significantly higher than in normals (p < 0.001) and increased progressively with the increasing ‘severity’ of the thalassemic disorder. In both thalassemic and nonthalassemic subjects, erythrocyte ferritin levels were related to body iron status, but in the thalassemic group, the increased erythrocyte ferritin values seemed also to be closely related to the intracellular metabolic abnormality. The severity of the defect in globin chain synthesis seemed to play an important role in determining ferritin accumulation in red cells of thalassemic subjects.

Serum iron, transferrin saturation, serum ferritin and urinary iron excretion have been tested in a group of Italian subjects with beta-thalassemia trait. A number of these subjects, mostly men, had signs of increased iron load. Serum ferritin was the most sensitive index among those measured for detection of iron overload and was positively correlated with desferrioxamine-induced urinary iron excretion. Italian males with beta-thalassemia trait may be at high risk of developing iron overload even without prolonged iron or transfusional therapy.