Hb Perth beta32(B14)Leu->Pro
ALSO KNOWN AS Abraham Lincoln; Kobe
CONTACT Internal
HEMATOLOGY Congenital hemolytic anemia with reticulocytosis in the heterozygote
ELECTROPHORESIS No separation observed
CHROMATOGRAPHY No separation observed
STRUCTURE STUDIES The betaX chain was precipitated with pCMB; tryptic digestion; fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CTG->CCG at codon 32
FUNCTION STUDIES Normal oxygen affinity
OCCURRENCE Found in an Australian male, a Black female from New Orleans, a severely anemic Hottentot male from South Africa, and a French male but not in his parents
OTHER INFORMATION De novo mutations
1. Jackson, J.M., Yates, A., and Huehns, E.R.: Br. J. Haematol., 25:607, 1973.
2. Honig, G.R., Green, D., Shamsuddin, M., Vida, L.N., Mason, R.G., Gnarra, D.J., and Maurer, H.S.: J. Clin. Invest., 52:1746, 1973.
3. Grove, S.S., Jenkins, T., Kamuzora, H.L., and Lehmann, H.: Acta Haematol., 57: 143, 1977.

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.