Hb Hinsdale beta139(H17)Asn->Lys
         
CONTACT Central cavity
HEMATOLOGY Nearly normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X migrates in the position of Hb F; at acidic pH Hb X has a mobility like Hb S
CHROMATOGRAPHY No specific information provided
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AAT->AAC or AAA at codon 139
FUNCTION STUDIES Decreased oxygen affinity and reduced cooperativity
STABILITY Normal
OCCURRENCE Found in three members of one family
OTHER INFORMATION Quantity in the heterozygote estimated at 45-46%
       
REFERENCES
1. Moo-Penn, W.F., Johnson, M.H., Jue, D.L., and Lonser, R.: Hemoglobin, 13:455, 1989.


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.