Hb Beckman beta135(H13)Ala->Glu
(or perhaps Asp)
NOTE: An Ala->Glu change would require a GCA or GCG mutation to GAA or GAG. The codons GCA and GCG do not occur in the beta-globin gene; GCA is in the gamma gene and GCG in the alpha gene
CONTACT Central cavity
HEMATOLOGY Chronic anemia; microcytosis; reticulocytosis
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves faster than Hb A
CHROMATOGRAPHY Not reported; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaA, betaX, alpha)
STRUCTURE STUDIES Tryptic digestion of betaX chain; analysis of tryptic peptides by reversed phase HPLC; amino acid analysis; FAB mass spectrometry
DNA ANALYSES Not reported; presumed mutation GCT->GAT at codon 135 that corresponds to an Ala->Asp replacement
FUNCTION STUDIES Decreased oxygen affinity
OCCURRENCE Found in a Black female
1. Rahbar, S., Lee, T., and Asmeron, Y.: Blood, 78:204a (Suppl. 1), 1991.

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.