Masala, Bruno Lucio and Manca, Laura (1991) Detection of the common Hb F Sardinia [Aγ(E19)Ile→Thr]variant by isoelectric focusing in normal newborns and in adults affected by elevated fetal hemoglobin syndromes. Clinica Chimica Acta, Vol. 198 (3), p. 195-202. ISSN 0009-8981. Article.
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A simple and rapid conventional isoelectric focusing technique for the detection of the silent Hb F Sardinia variant, containing the mutated AγT 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 AγT gene in Sardinian newborn (f = 0.175), in βo-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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