Neonatal screening of beta-thalassemias by thin layer isoelectric focusing

Am J Hematol. 1982 Sep;13(2):149-57. doi: 10.1002/ajh.2830130207.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fetal Blood / analysis
  • Fetal Hemoglobin / analysis
  • Fetal Hemoglobin / genetics
  • Hemoglobin A / analysis
  • Hemoglobin A / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Hydrogen-Ion Concentration
  • Infant
  • Infant, Newborn
  • Infant, Newborn, Diseases / blood
  • Infant, Newborn, Diseases / diagnosis*
  • Infant, Newborn, Diseases / genetics
  • Isoelectric Focusing*
  • Thalassemia / blood
  • Thalassemia / diagnosis*
  • Thalassemia / genetics

Substances

  • Hemoglobin A
  • Fetal Hemoglobin