Abstract

Analysis of haemoglobin chain synthesis was performed in 15 Apulian patients with Hb H disease and in their patients and offspring. The Apulian carriers of Hb H disease show a marked imbalance of alpha and beta chain synthesis (0.39 +/- 0.1) with variable clinical and haematological manifestations. However, we are dealing with an intermediate form similar to that described in Italians from other regions. A significant difference was found between the mean alpha/beta ratio values (0.81 +/- 0.13) of parents and offspring of Hb H patients and those of the normal controls (1.05 +/- 0.09); however, extensive overlapping between these two groups exists. These results have led us to the conclusion that the forms of alpha-thalassaemia found in Apulia are similar to the alpha defects observed in Sicily; in both cases, in fact, haemoglobin chain synthesis was an unreliable test for discriminating between alpha-thalassaemia-1 trait and alpha-thalassaemia-2 trait.