Hb Hafnia	beta116(G18)His->Gln

CONTACT		External; alpha1beta1 contact
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Complete separation is obtained by IEF; Hb X focuses ahead of Hb A
CHROMATOGRAPHY		Not reported; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaA, betaX, alpha)
STRUCTURE STUDIES		Tryptic digestion of oxidized betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation CAT->CAA or CAG at codon 116
FUNCTION STUDIES		Marginally increased oxygen affinity
STABILITY		Normal
OCCURRENCE		Found in six members of a Danish family
OTHER INFORMATION		Quantity in the heterozygote ~50%

REFERENCES
1.		Blanke, S., Johnsen, A., Wimberley, P.D., and Mortensen, H.B.: Biochim. Biophys. Acta, 955:214, 1988.

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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.