Hb Fukutomi alpha126(H9)Asp->Val
         
CONTACT alpha1beta1 contact
HEMATOLOGY Slight erythrocytosis in the heterozygote
ELECTROPHORESIS Hb X and Hb A are best separated by IEF
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; sequence analysis
DNA ANALYSES Not reported; presumed mutation GAC->GTC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity; increased resistance to oxidation
STABILITY Not reported
OCCURRENCE Found in a 52-year-old Japanese male
OTHER INFORMATION Quantity in the heterozygote 24%
       
REFERENCES
1. Hidaka, K., Iuchi, I., Kobayashi, T., Katoh, K., and Yaguchi, K.: Hemoglobin, 14: 499, 1990.


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.