Hb Andrew-Minneapolis beta144(HC1)Lys->Asn
CONTACT External
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.52-0.57 l/l)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A; Hb X moves between Hb A and Hb F at acidic pH
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing; mass spectrometry
DNA ANALYSES Not reported; presumed mutation AAG->AAT or AAC at codon 144
FUNCTION STUDIES Increased oxygen affinity; decreased Bohr effect; normal cooperativity and 2,3-DPG effect
STABILITY Not reported
OCCURRENCE Found in eight members of a family of unknown ethnic origin, and in a Bulgarian family
OTHER INFORMATION Quantity in the heterozygote ~45%
1. Zak, S.J., Brimhall, B., Jones, R.T., and Kaplan, M.E.: Blood, 44:543, 1974.
2. Hebbel, R.P., Kronenberg, R.S., and Eaton, J.W.: J. Clin. Invest., 60:1211, 1977.
3. Tasheva, E.S., Zareva, Z.Z., Tupozova, S.T., and Molchanova, T.P.: Hemoglobin, 14:227, 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.