Hb Mobile beta73(E17)Asp->Val
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH (Hb X is slightly faster than Hb S); no separation at acidic pH
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAT->GTT at codon 73
FUNCTION STUDIES Decreased oxygen affinity; normal Bohr, cooperativity, and 2,3-DPG effect
STABILITY Not reported but presumably normal
OCCURRENCE Found in three Black families living in Alabama
OTHER INFORMATION Quantity in the heterozygote 42%; found in combination with Hb S
1. Schneider, R.G., Hosty, T.S., Tomlin, G., Atkins, R., Brimhall, B., and Jones, R.T.: Biochem. Genet., 13:411, 1975.
2. Schneider, R.G., Smith, W.B., Zusman, J., King, T.D., Jones, R.T., and Brimhall, B.: Blood, 52:118 (Suppl. 1), 1978.
3. Jones, R.T. and Koler, R.D.: Abstract, 16th International Congress of Hematol-ogy, Kyoto, Japan, page 48, 1976.
4. Jones, R.T., Brimhall, B., Pootrakul, S., and Gray, G.: J. Mol. Evol., 9:37, 1976.

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.