As an alternative to the recently proposed screening for β-thalassemias by isoelectric focusing (IEF) of denatured globin chains in urea-detergent gels [6], IEF of intact hemoglobins, obtained from umbilical cord blood in neonatal units, is reported here. For maximum separation, IEF should be performed in nonlinear pH gradients, in gels containing 0.2 M β-alanine and 0.2 M 6-amino caproic acid, which flatten the pH gradient around pH 7, thus increasing the resolution between HbA and HbF(ac). The method can unambiguously detect homozygous and heterozygous β-thalassemic conditions. A bimodal distribution of HbA at birth has been found: In heterozygous patients, HbA values of 9.02% (range 6.8-9.98%) have been found while in normal newborns HbA levels of 20.34% (range 11.02-30.6%) have been demonstrated.
Neonatal screening of beta-thalassemias by thin-layer isoelectric focusing / G. Cossu, M. Manca, P.M. Gavina, R. Bullitta, A. Bianchi-Bosisio, E. Gianazza, P.G. Righetti. - In: AMERICAN JOURNAL OF HEMATOLOGY. - ISSN 0361-8609. - 13:2(1982), pp. 149-157. [10.1002/ajh.2830130207]
Neonatal screening of beta-thalassemias by thin-layer isoelectric focusing
E. Gianazza;
1982
Abstract
As an alternative to the recently proposed screening for β-thalassemias by isoelectric focusing (IEF) of denatured globin chains in urea-detergent gels [6], IEF of intact hemoglobins, obtained from umbilical cord blood in neonatal units, is reported here. For maximum separation, IEF should be performed in nonlinear pH gradients, in gels containing 0.2 M β-alanine and 0.2 M 6-amino caproic acid, which flatten the pH gradient around pH 7, thus increasing the resolution between HbA and HbF(ac). The method can unambiguously detect homozygous and heterozygous β-thalassemic conditions. A bimodal distribution of HbA at birth has been found: In heterozygous patients, HbA values of 9.02% (range 6.8-9.98%) have been found while in normal newborns HbA levels of 20.34% (range 11.02-30.6%) have been demonstrated.Pubblicazioni consigliate
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