Hb Chemilly beta99(G1)Asp->Val
CONTACT Internal; alpha1beta2 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.55 l/l)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves as Hb F; no separation at acidic pH
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAT->GTT at codon 99
FUNCTION STUDIES Increased oxygen affinity; decreased Bohr effect and cooperativity
STABILITY Not reported
OCCURRENCE Found in a 35-year-old French Caucasian female
OTHER INFORMATION Quantity in the heterozygote 40%
1. Rochette, J., Poyart, C., Varet, B., and Wajcman, H.: FEBS Lett., 166:8, 1984.

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.