Hb Okaloosa	beta48(CD7)Leu->Arg

CONTACT		External
HEMATOLOGY		Normal in the heterozygote; mild reticulocytosis
ELECTROPHORESIS		Hb X and Hb A separate well at alkaline pH (Hb X moves in the position of Hb S) but not at acidic pH
CHROMATOGRAPHY		Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by cation exchange chromatography; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation CTG->CGG at codon 48
FUNCTION STUDIES		Decreased oxygen affinity; Bohr effect and cooperativity normal; increased 2,3-DPG effect
STABILITY		Unstable
OCCURRENCE		Found in six members of a Caucasian family living in Florida, USA
OTHER INFORMATION		Quantity in the heterozygote 32-36%

REFERENCES
1.		Charache, S., Brimhall, B., and Milner, P.: J. Clin. Invest., 52:2858, 1973.

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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.