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Neonatal screening of β-thalassemias by thin layer isoelectric focusing

✍ Scribed by Gianfranco Cossu; Mario Manca; M. Gavina Pirastru; Renza Bullitta; Adriana Bianchi Bosisio; Elisabetta Gianazza; Pier Giorgio Righetti


Book ID
102700499
Publisher
John Wiley and Sons
Year
1982
Tongue
English
Weight
752 KB
Volume
13
Category
Article
ISSN
0361-8609

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✦ Synopsis


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.


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