Hb J-Europa beta62(E6)Ala->Asp
         
CONTACT External
HEMATOLOGY Mild erythrocytosis in the heterozygote (PCV 0.50 l/l)
ELECTROPHORESIS Hb JX and Hb A separate at alkaline pH and by IEF
CHROMATOGRAPHY Hb JX can be isolated by cation or anion exchange chroma-tography
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GCT->GAT at codon 62
FUNCTION STUDIES Normal oxygen binding
STABILITY Normal
OCCURRENCE Found in a few members of an Italian family
OTHER INFORMATION Quantity in the heterozygote 43%
       
REFERENCES
1. Kiger, L., Groff, P., Kalmes, G., Kister, J., Promé, D., Galactéros, F., and Wajcman, H.: Hemoglobin, 20:135, 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.