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
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation ACT->[AAA or AAG] at codon 50 (see below)
FUNCTION STUDIES		Not reported
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

REFERENCES
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.