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
OCCURRENCE Found in six members of a Danish family
OTHER INFORMATION Quantity in the heterozygote ~50%
1. Blanke, S., Johnsen, A., Wimberley, P.D., and Mortensen, H.B.: Biochim. Biophys. Acta, 955:214, 1988.

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.