Hb Muscat	beta32(B14)Leu->Val

CONTACT		Internal
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A do not separate at alkaline pH; no separation by IEF
CHROMATOGRAPHY		No separation of Hb X and Hb A; the betaX chain elutes ahead of betaA on a reversed phase HPLC column
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation CTG->GTG at codon 31
FUNCTION STUDIES		Not reported
STABILITY		Slightly unstable
OCCURRENCE		Found in an Arabian family from Muscat, Oman
OTHER INFORMATION		One member of the family had Hb S combined with Hb Muscat; betaX = 47.5% and betaS = 52.5%; in the heterozygote: betaA = 58.5%; betaX = 41.5%

REFERENCES
1.		Ramachandran, M., Gu, L-H., Wilson, J.B., Kitundu, M.N., Adekile, A.D., Liu, J-C., McKie, K.M., and Huisman, T.H.J.: Hemoglobin, 16:259, 1992.

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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.