Hb J-Iran beta77(EF1)His->Asp
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X is fast moving
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC or by fingerprinting; amino acid analysis; chymotrypsin; sequencing
DNA ANALYSES Not reported; presumed mutation CAC->GAC at codon 77
FUNCTION STUDIES Not reported
STABILITY Not reported
OCCURRENCE Found in an Iranian family and in a Turkish family
OTHER INFORMATION Quantity in the heterozygote 43-47%
       
REFERENCES
1. Rahbar, S., Beale, D., Isaacs, W.A., and Lehmann, H.: Br. Med. J., 1:674, 1967.
2. Arcasoy, A., Turhanoglu, I., Gozdasoglu, S., and Ogur, G.: Hemoglobin, 10:209, 1986.


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.