Hb Fuchu-I alpha72(EF1)His->Tyr
         
CONTACT External; no contact with heme or other chain
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X focuses ahead of Hb A by IEF
CHROMATOGRAPHY Hb X and Hb A separate by anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion of alphaX chain; separation of peptides by HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CAC->TAC at codon 72; alpha2 or alpha1
FUNCTION STUDIES Not reported
STABILITY Normal
OCCURRENCE Found in a 27-year-old Japanese female
OTHER INFORMATION Quantity in the heterozygote ~22%
       
REFERENCES
1. Harano, T., Harano, K., Uehara, S., and Matsushita, K.: Hemoglobin, 19:389, 1995.


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.