Neonatal screening of beta-thalassemias by thin layer isoelectric focusing.
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.
D005312:Fetal Blood / Q000032:analysis; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics; D006441:Hemoglobin A / Q000032:analysis / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D007525:Isoelectric Focusing; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
D006441:Hemoglobin A; D005319:Fetal Hemoglobin