BETA-THALASSEMIA TRAIT IN SARDINIA

The red cell indices and results of globin chain synthesis in peripheral blood of obligate βdeg; thalassemia (βdeg; thal) carriers (parents of hamozygous βdeg; thal children) and β thalassemia (β thal) carriers identified during mass screening are reported. Red cell indices were similar in obligate βdeg; carriers and in carriers diagnosed during mass screening. However there was a higher incidence of anemia in female obligate βdeg; thal carriers. In Sardinia the βdeg; thal carrier showed the usual hematological characteristics of the high Hb A2 β thal carrier with microcytosis, hypochromia, reduced osmotic fragility: Hb F > 1% was found in 30% of the carriers. With MCV, MCH, osmotic fragility test (OFT) and Shine and Lal discriminant function we found 3.5% 1.5% 3.5% and 4.0% respectively false negatives in carrier identification. A part from one subject, all obligate carriers had elevated Hb A2 levels. The αbeta; ratio in obligate carriers (mean±SD) was 1.83±0.26 (N=30). © 1979 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.