Beta-Thalassaemia types in southern Sardinia.

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Abstract
The prevalance of the different .beta.-thalassemia types in southern Sardinia, Italy was investigated by cellulose acetate and agar gel electrophoresis or globin chain synthesis analysis on column chromatography or both in 347 patients with thalassemia major or intermedia and a group of 82 patients with transfusion-dependent thalassemia major randomly chosen from 236. Apart from 6 subjects with .delta..beta..degree./.beta..degree.-thalassemia genotype and 8 with .beta..degree./.beta.+ or less probably .beta.+/.beta.+-thalassemia, all thalassemia major and intermedia patients studied were .beta..degree.-thalassemia homozygotes. Globin chain synthesis on peripheral blood cells from these patients, performed at different intervals from blood transfusions, showed no incorporation of radioactive leucine into .beta.-globin peak, the same as before the transfusion. No correlation between .alpha./.gamma. ratios and clinical severity or hypersplenism was found. Globin chain synthesis analysis carried out at birth in 3 infants later found to have homozygous .beta..degree.-thalassemia demonstrated imbalanced or borderline .alpha./.gamma. ratios.