Hb Fukuoka beta2(NA2)His->Tyr
         
CONTACT 2,3-DPG binding site
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves very close to Hb A by IEF; no abnormality was noted on cellulose acetate
CHROMATOGRAPHY Hb X and Hb A can be separated by cation exchange HPLC; Hb X elutes between Hb A1c and Hb A
STRUCTURE STUDIES Tryptic digestion; fingerprinting on a reversed phase HPLC column; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CAC->TAC at codon 2
FUNCTION STUDIES Normal
STABILITY Not reported
OCCURRENCE Found in a Japanese female
OTHER INFORMATION Quantity in the heterozygote about 40%
       
REFERENCES
1. Harano, T., Harano, K., Ueda, S., Imai, K., Ohkuma, A., Koya, Y., and Takahashi, H.: Hemoglobin, 14:199, 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.