PMID: 6182795Sep 1, 1982

Neonatal screening of beta-thalassemias by thin layer isoelectric focusing

American Journal of Hematology
G CossuP G Righetti

Abstract

As an alternative to the recently proposed screening for beta-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 beta-alanine and 0.2 M 6-amino caproic acid, which flatten the pH gradient around pH 7, thus increasing the resolution between HbA and HbFac. The method can unambiguously detect homozygous and heterozygous beta-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.

References

Sep 1, 1977·Analytical Biochemistry·N Y Nguyen, A Chrambach
Jan 1, 1979·Journal of Biochemical and Biophysical Methods·P G RighettiL Rossi-Bernardi
Jan 1, 1978·American Journal of Hematology·L BeccariaP G Righetti
Aug 15, 1975·European Journal of Biochemistry·R A Laskey, A D Mills
Nov 1, 1966·The American Journal of Medicine·D G Nathan, R B Gunn
Jan 19, 1971·Biochimica Et Biophysica Acta·J W DrysdaleH F Bunn
Dec 1, 1965·American Journal of Clinical Pathology·R O BriereJ G Batsakis
Nov 6, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·K ValkonenP G Righetti

Citations

Jan 1, 1989·Comparative Biochemistry and Physiology. B, Comparative Biochemistry·A Di LucciaL Ferrara
Jun 1, 1987·Journal of Medical Genetics·D K BowdenJ B Clegg
Apr 2, 2008·IUBMB Life·L Manca, B Masala
Sep 1, 1984·British Journal of Haematology·A Maggio, S Castellano
Jan 1, 1985·Hemoglobin·G V SciarrattaT H Huisman
Jul 1, 1986·American Journal of Hematology·M MancaP G Righetti

Related Concepts

Umbilical Cord Blood
Fetal Hemoglobin
Hemoglobin A
Genetic Carriers
Hydrogen-Ion Concentration
Neonatal Disorder
Isoelectric Focusing
Thalassemia

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