Hb Altdorf beta135(H13)Ala->Pro
CONTACT Central cavity
HEMATOLOGY Moderate hemolytic anemia in the heterozygote
ELECTROPHORESIS No separation with standard techniques
STRUCTURE STUDIES Tryptic digestion of impure AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GCT->CCT at codon 135
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity
OCCURRENCE Found in members of an Italian family
OTHER INFORMATION Quantity in the heterozygote 35%
1. Marti, H.R., Winterhalter, K.H., Di Iorio, E.E., Lorkin, P.A., and Lehmann, H.: FEBS Lett., 63:193, 1976.

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.