Hb Graz	beta2(NA2)His->Leu

CONTACT		2,3-DPG binding site
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X has a Hb F-like mobility on citrate agar; Hb X and Hb A can be separated by IEF
CHROMATOGRAPHY		Hb X and Hb A separate by cation exchange HPLC; the betaX and betaA chains can be separated by reversed phase HPLC
STRUCTURE STUDIES		Tryptic digestion; fingerprinting by reversed phase HPLC; amino acid analysis
DNA ANALYSES		A CAC->CTC mutation at codon 2
FUNCTION STUDIES		Normal
STABILITY		Normal
OCCURRENCE		Discovered in several Austrian families
OTHER INFORMATION		DNA analysis showed that the mutation was present in codon 2 (CAT->CTT); a polymorphim at codon 2 (CAT->CAC) was also observed; quantity in heterozygotes 41-46%

REFERENCES
1.		Liu, J-S., Molchanova, T.P., Gu, L-H., Wilson, J. B., Hopmeier, P., Schnedl, W., Balaun, E., Krejz, G.J., and Huisman, T.H.J.: Hemoglobin, 16:493, 1992.

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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.