Hb Tsurumai beta82(EF6)Lys->Gln
CONTACT 2,3-DPG binding site
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.56-0.58 l/l)
ELECTROPHORESIS Hb X focuses ahead of Hb A in IEF
CHROMATOGRAPHY Hb X and Hb A readily separate by anion or cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAG->CAG at codon 82
FUNCTION STUDIES Increased oxygen affinity
OCCURRENCE Found in a 46-year-old Japanese male and his son
OTHER INFORMATION Quantity in the heterozygote ~49%
1. Ohba, Y., Yamada, H., Takamatsu, S., and Imai, K.: Hemoglobin, 20:141, 1996.

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.