Hb British Columbia beta101(G3)Glu->Lys
CONTACT Internal; central cavity; alpha1beta2 contact
HEMATOLOGY Mild erythrocytosis in the heterozygote (PCV 0.49 l/l)
ELECTROPHORESIS Hb X moves between Hb A and Hb S at alkaline pH; Hb X moves slightly behind Hb C at acidic pH
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAG->AAG at codon 101
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity; normal Bohr effect
OCCURRENCE Found in a 26-year-old East Indian male living in Vancouver, BC, Canada
OTHER INFORMATION Quantity in the heterozygote 54.1% (starch block electrophoresis)
1. Jones, R.T., Brimhall, B., and Gray, G.: Hemoglobin, 1:171, 1977.
2. Shih, D.T-b., Jones, R.T., Imai, K., and Tyuma, I.: J. Biol. Chem., 260:5919, 1985.

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.