Abstract

A simple and rapid conventional isoelectric focusing technique for the detection of the silent Hb F Sardinia variant, containing the mutated ^Aγ^T chain, is described. The method is based on thin-layer gels of shallow pH gradient (pH 6.7–7.7) and allows the direct detection of this rather common and widespread Hb variant at a screening level. 15–30 hemolysates from newborns and adults affected by elevated Hb F syndromes, both in the heterozygous and homozygous condition, could be examined simultaneously. The frequency of the ^Aγ^T gene in Sardinian newborn (f = 0.175), in β^o-thalassemia (f = 0.722), in β⁺-thalassemia (f = 0.346), and in the non-deletional type of ^Aγ-HPFH (f = 0), as evaluated with this method, is in accordance with that previously reported by means of other methodologies.

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