Hb Yakima beta99(G1)Asp->His
CONTACT Internal; alpha1beta2 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.45-0.55 l/l)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves like Hb F; Hb X moves between Hb A and Hb S, closer to Hb S, at acidic pH
CHROMATOGRAPHY Hb X and Hb A were separated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by cation exchange chromatography; amino acid analysis; carboxypeptidase A and B; leucine amino peptidase; sequencing
DNA ANALYSES Not reported; presumed mutation GAT->CAT at codon 99
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity; normal Bohr effect
OCCURRENCE Found in three members of a Caucasian family
OTHER INFORMATION Quantity in the heterozygote 38.5%; father, a heterozygote, developed acute nonlymphocytic leukemia following years of treatment with 32P
1. Jones, R.T., Osgood, E.E., Brimhall, B., and Koler, R.D.: J. Clin. Invest., 46: 1840, 1967.
2. Novy, M.J., Edwards, M.J., and Metcalfe, J.: J. Clin. Invest., 46:1848, 1967.
3. Bagby, G.C., Jr., Richert-Boe, K., and Koler, R.D.: Blood, 52:350, 1978.

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.