Hb Masuda beta114(G16)Leu->Met;
beta119(GH2)Gly->Asp
         
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A readily separate by IEF; Hb X focuses ahead of Hb A
CHROMATOGRAPHY Hb X elutes ahead of Hb A by cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutations CTG->ATG and GGC->GAC at codons 114 and 119
FUNCTION STUDIES Normal
STABILITY Normal to mildly unstable
OCCURRENCE Found in a 46-year-old Japanese male
OTHER INFORMATION Quantity in the heterozygote estimated at ~40%; the beta114 Leu->Met mutation is characteristic for Hb Zengcheng and beta119 Gly->Asp for Hb Fannin-Lubbock
       
REFERENCES
1. Ohba, Y., Ami, M., Imai, K., Komatsu, K., and Amatsu, K.: Hemoglobin, 13:753, 1989.


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.