Hb Beirut beta126(H4)Val->Ala
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS No separation of Hb X and Hb A with conventional techniques or with IEF
CHROMATOGRAPHY No separation of Hb X and Hb A by cation or anion exchange HPLC; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GTG->GCG at codon 126
FUNCTION STUDIES Normal oxygen affinity
OCCURRENCE Found in members of a Lebanese family
OTHER INFORMATION Quantity in the heterozygote 42-46%
1. Strahler, J.R., Rosenbloom, B.B., and Hanash, S.M.: Science, 221:869, 1983.

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.