Hb Mito beta144(HC1)Lys->Glu
CONTACT External
HEMATOLOGY Mild erythrocytosis in the heterozygote (PCV 0.46 l/l)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A; Hb X migrates anodally to Hb A on IEF
CHROMATOGRAPHY Not reported; the betaX chain was readily isolated by CM-52 chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AAG->CAG at codon 144
FUNCTION STUDIES Increased oxygen affinity; decreased Bohr effect; normal cooperativity
OCCURRENCE Found in a 63-year-old Japanese female
OTHER INFORMATION Quantity in the heterozygote 42-43%
1. Harano, K., Harano, T., Ueda, S., Ohkushi, T., and Imai, K.: FEBS Lett., 192: 7578, 1985.

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.