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.


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.