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
OCCURRENCE Found in six members of a Caucasian family living in Florida, USA
OTHER INFORMATION Quantity in the heterozygote 32-36%
1. Charache, S., Brimhall, B., and Milner, P.: J. Clin. Invest., 52:2858, 1973.

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.