The level of Hb F‐sardinia (α2A γ275IIe→Thr) in the fetal hemoglobin of sardinian β‐thalassemic homozygotes determined by isoelectric focusing

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Abstract
A simple thin-layer isoelectric focusing technique was used to separate Hb F-Sardinia, containing the AγT-globin chain, from the Hb F containing the γ- and the AγI- globin chains. The identity of the slow-moving Hb F fraction as Hb F-Sardinia was verified by PAGE. A negative correlation (R2 = 0.747, p < 0.001) was found between the percent Hb F-Sardinia and percent Gγ-chain in homozygotes for β-thalassemia. Of 31 Sardinian β-thalassemic patients studied, 21 were homozygous and eight heterozygous for the AγT polymorphism with a gene frequency of 0.823. The mean values of Hb F-Sardinia were 39.1 ± 5.9% for the homozygotes and 17.1 ± 3.6% for the heterozygotes. The percentage of Hb F-Sardinia found in β°-thalassemic newborns was similar to that of corresponding normal newborns who also had the AγT poly-morphism. No measurable differences in the percent Hb F-Sardinia level were observed among β°-thal patients who were polytransfused, β°-thal patients studied before transfusion, and β°-thal patients exhibiting the intermediate form of the disease who had never been transfused.