Hb Köln	beta98(FG5)Val->Met

ALSO KNOWN AS		San Francisco (Pacific); Ube-I
CONTACT		Internal; heme and alpha1beta2 contacts
HEMATOLOGY		Mild hemolytic anemia in the heterozygote; reticulocytosis; Heinz body formation
ELECTROPHORESIS		Hb X moves as a multiple Hb component between Hb A and Hb A2 in various media at alkaline pH
CHROMATOGRAPHY		Hb X can be isolated by DEAE-Sephadex or CM-Sephadex chromatography; chains can best be separated by reversed phase HPLC
STRUCTURE STUDIES		Tryptic digestion of AE-beta chain; separation of peptides by fingerprinting; cation exchange HPLC; reversed phase HPLC; amino acid analysis
DNA ANALYSES		A GTG->ATG mutation at codon 98
FUNCTION STUDIES		Increased oxygen affinity; no cooperativity; normal 2,3-DPG effect
STABILITY		Unstable
OCCURRENCE		Hb Köln is found in various racial and ethnic groups; it is the most common unstable Hb, often observed as a de novo mutation
OTHER INFORMATION		Quantity in the heterozygote not accurately determined

REFERENCES
1.		Pribilla, W., Klesse, P., Betke, K., Lehmann, H., and Beale, D.: Klin. Wschr., 43: 1049, 1965.
2.		Carrell, R.W., Lehmann, H., and Hutchinson, H.E., Nature, 210:915, 1966.
3.		Ohba, Y.: Hemoglobin, 14:353, 1990.

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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.