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
STABILITY		Unstable
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

REFERENCES
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.

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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.