Hb Arya alpha47(CE5)Asp->Asn
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH but not at acidic pH; moves with Hb S on cellulose acetate; moves as Hb S on starch gel
CHROMATOGRAPHY Hb X was isolated on a DEAE-cellulose column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAC->AAC; alpha2 or alpha1
FUNCTIONAL STUDIES Not reported
STABILITY Slightly unstable
OCCURRENCE Found in an Iranian family
OTHER INFORMATION Quantity in heterozygotes 22%
       
REFERENCES
1. Rahbar, S., Mahdavi, N., Nowzari, G., and Mostafavi, I.: Biochim. Biophys. Acta, 386:525, 1975.


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.