Hb Hope beta136(H14)Gly->Asp
CONTACT Central cavity
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves slightly faster than Hb A; best separation by IEF
CHROMATOGRAPHY Hb X and Hb A separate in cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by chromatography or by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GGT->GAT at codon 136
FUNCTION STUDIES Decreased oxygen affinity and cooperativity; normal Bohr effect
STABILITY Mildly unstable
OCCURRENCE Found in several Black families, in Japanese, Thai, Laotian, and Cuban families
OTHER INFORMATION Quantity in the heterozygote 40-50%; found in combination with Hb S, Hb E, alpha-thal-2 (-3.7 kb), and with beta-thal
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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.