Hb Bougardirey-Mali beta119(GH2)Gly->Val
CONTACT External; alpha1beta1 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS No separation of Hb X and Hb A by standard procedures; Hb X moves like Hb F in IEF on polyacrylamide gel
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting and by cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GGC->GTC at codon 119
FUNCTION STUDIES Normal oxygen affinity
STABILITY Slightly unstable
OCCURRENCE Found in a 32-year-old African male from Mali
OTHER INFORMATION Quantity in the heterozygote 35%
1. Chen-Marotel, J., Braconnier, F., Blouquit, Y., Martin-Caburi, J., Kammerer, J., and Rosa, J.: Hemoglobin, 3:253, 1979.

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.