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
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
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.

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.