Hb M-Hyde Park beta92(F8)His->Tyr
CONTACT Heme contact; proximal histidine
HEMATOLOGY Hereditary cyanosis (ferriHb) in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves slightly ahead of Hb A2
CHROMATOGRAPHY Hb X and Hb A can be separated by anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion of the AE-betaX chain; separation of peptides by cation exchange chromatography or by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CAC->TAC at codon 92
FUNCTION STUDIES Normal oxygen affinity
STABILITY Unstable; dissociation into dimers
OCCURRENCE Found in a Black subject living in the USA, a Japanese family, members of a Yugoslavian family, a Caucasian female of Norwegian-German ancestry as a de novo mutation
OTHER INFORMATION Patients often misdiagnosed as having cyanotic heart disease; quantity in the heterozygote 23-32%
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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.