Hb Nevers beta130(H8)Tyr->Ser
CONTACT Internal
HEMATOLOGY Mild erythrocytosis in the heterozygote (PCV 0.49-0.54 l/l)
ELECTROPHORESIS No separation by standard procedures; Hb X focuses like Hb A1c by IEF
CHROMATOGRAPHY No separation reported, but betaX and betaA chains do separate by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES Tryptic digestion of an AE-betaX+betaA mixture; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation TAT->TCT at codon 130
FUNCTION STUDIES Slight increase in oxygen affinity
STABILITY Mildly unstable
OCCURRENCE Found in members of a French Caucasian family
OTHER INFORMATION Quantity in the heterozygote 33-36%
1. Kéclard, L., Campier, A., Mérault, G., Aupérin, A., Riou, J., Rosa, J., and Galactéros, F.: Hemoglobin, 14:103, 1990.

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.