Hb M-Iwate alpha87(F8)His->Tyr
ALSO KNOWN AS M-Kankakee; M-Oldenburg; M-Sendai
CONTACT Heme contact; proximal histidine
ELECTROPHORESIS Separation of Hb X and Hb A is possible at alkaline pH; Hb X appears as a grayish-green band; best results are obtained with IEF
CHROMATOGRAPHY Can be isolated on columns with different cation or anion exchange material
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; cation exchange chromatography; amino acid analysis
DNA ANALYSES A CAC->TAC mutation at codon 87 of the alpha1 gene (Ref. 15)
FUNCTIONAL STUDIES Decreased oxygen affinity; normal Bohr effect between pH values 6.3-7.5
STABILITY Relatively stable
OCCURRENCE Found in Japanese, Irish, German, Turkish, Rumanian, Scottish- German, and Black families; the occurrence of this variant in some families is the result of a spontaneous mutation
OTHER INFORMATION Quantity in heterozygotes 15-25%; ferriHb (metHb), responsible for the cyanotic appearance of the carrier, already observed at birth; specific spectral changes
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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.