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Neonatal screening of β‐thalassemias by thin layer isoelectric focusing
Author(s) -
Cossu Gianfranco,
Manca Mario,
Pirastru M. Gavina,
Bullitta Renza,
Bosisio Adriana Bianchi,
Gianazza Elisabetta,
Righetti Pier Giorgio
Publication year - 1982
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830130207
Subject(s) - isoelectric focusing , caproic acid , umbilical cord , chromatography , thalassemia , chemistry , isoelectric point , cord blood , reference range , medicine , biochemistry , immunology , enzyme , organic chemistry
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.