Hb E beta26(B8)Glu->Lys
CONTACT External
HEMATOLOGY Mild microcytosis in heterozygotes; normal to mild anemia, reduced red cell survival, reduced MCV, target cells, reduced osmotic fragility in homozygotes
ELECTROPHORESIS Hb E and Hb A can readily be separated at alkaline pH but not at acidic pH; Hb E moves much slower than Hb A, just ahead of Hb A2 and Hb C
CHROMATOGRAPHY Hb E and Hb A separate at cation and anion exchange chromatography; it elutes with Hb A2 in several chromatographic systems, including cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES A GAG->AAG mutation at codon 26
FUNCTION STUDIES Purified Hb E has a normal oxygen affinity
STABILITY Mildly unstable; it is sensitive to oxidative stress
OCCURRENCE Widespread in the Far East; has been observed in combination with various Hb variants, including Hb S, Hb C, Hb D, Hb I, etc., and with different beta-thal alleles
OTHER INFORMATION Quantity in the heterozygote with four alpha genes (alphaalpha/alphaalpha) ~30%; Hb E is one of the most frequently studied variants; references can be found in the listed monographs
1. Weatherall, D.J. and Higgs, D.R., editors: The Haemoglobinopathies, Bailliere's Clinical Haematology, Vol. 6, W.B. Saunders Company, London, 1993.
2. Miller, D.R. and Baehner, R.L., editors: Blood Diseases of Infancy and Childhood, 7th edition, Mosby-Year Book, Inc., St. Louis, MO, 1995.

This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.