Hb Hirosaki alpha43(CE1)Phe->Leu
         
CONTACT Heme contact
HEMATOLOGY Congenital non-spherocytic hemolytic anemia
ELECTROPHORESIS Hb X and Hb A difficult to separate; Hb X moves with Hb A on agar gel at pH 8.6 and 7.0; data for IEF are not available
CHROMATOGRAPHY Data for HPLC procedures are not available
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing of a selected peptide
DNA ANALYSES Not reported; presumed mutation TTC->CTC; alpha2 or alpha1
FUNCTIONAL STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in several members of a Japanese (?) family
OTHER INFORMATION Quantity in heterozygotes difficult to determine; it is estimated at ~10%
       
REFERENCES
1. Ohba, Y., Miyaji, T., Matsuoka, M., Yokoyama, M., Numakura, H., Nagata, K., Takebe, Y., Izumi, Y., and Shibata, S.: Biochim. Biophys. Acta, 405:155, 1975.
2. Ohba, Y., Miyaji, T., Matsuoka, M., and Yokoyama, M.: Hemoglobin, 2:281, 1978.


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.