Hb Regina	beta96(FG3)Leu->Val

CONTACT		Heme contact
HEMATOLOGY		Mild erythrocytosis in the heterozygote
ELECTROPHORESIS		None of the available electrophoretic procedures allowed the separation of Hb X and Hb A
CHROMATOGRAPHY		Hb X and Hb A separate by cation exchange HPLC (Hb X elutes behind Hb A)
STRUCTURE STUDIES		Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		A CTG->GTG mutation at codon 96
FUNCTION STUDIES		Increased oxygen affinity
STABILITY		Normal
OCCURRENCE		Found in a Caucasian male of Scandinavian descent
OTHER INFORMATION		Quantity in the heterozygote ~40%

REFERENCES
1.		Devaraj, R., Wilson, J.B., and Huisman, T.H.J.: Am. J. Hematol., 19:195, 1985.

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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.