Hb Edmonton beta50(D1)Thr->Lys
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH (Hb X moves in the position of Hb S) but not at acidic pH
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation ACT->[AAA or AAG] at codon 50 (see below)
STABILITY Not reported
OCCURRENCE Found in a Canadian male of Ukrainian origin
OTHER INFORMATION Quantity in the heterozygote 20% (probably too low); prior to the mutation the codon at beta50 likely was ACA (->AAA) or ACG (->AAG) rather than the listed ACT
1. Labossiere, A., Hill, J.R., and Vella, F.: Clin. Biochem., 4:114, 1971.

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.