Hb Hinwil beta38(C4)Thr->Asn
CONTACT Heme contact
HEMATOLOGY Mild erythrocytosis in the heterozygote (PCV 0.45-0.50 l/l)
ELECTROPHORESIS Hb X and Hb A partially separate by IEF
CHROMATOGRAPHY No separation by cation exchange HPLC; betaX separates from betaA and alpha by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES The tryptic betaXT-4 peptide was isolated and sequenced
DNA ANALYSES An ACC->AAC mutation at codon 38
FUNCTION STUDIES Increased oxygen affinity; reduced cooperativity
OCCURRENCE Found in a Swiss female and her two daughters
OTHER INFORMATION betaX = 44% of betaA+betaX
1. Frischknecht, H., Ventruto, M., Hess, D., Hunziker, P., Rosatelli, M.C., Cao, A., Breitenstein, U., Fehr, J., and Tuchschmid.: Hemoglobin, 20:31, 1996.

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.