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.

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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.