Hb Arta	beta45(CD4)Phe->Cys

CONTACT		Heme contact
HEMATOLOGY		Probably normal in the heterozygote; the proband is a compound heterozygote with betao-thal (codon 39, C->T); she has a moderate anemia with reticulocytosis; Heinz bodies
ELECTROPHORESIS		No separation at alkaline pH or by IEF; citrate agar electrophoresis at pH 6 shows "a band slower than Hb A"
CHROMATOGRAPHY		Not reported; the betaX chain elutes earlier than the betaA chain in reversed phase HPLC
STRUCTURE STUDIES		"confirmatory of a Phe->Cys mutation at codon 45"
DNA ANALYSES		A TTT->TGT mutation at codon 45
FUNCTION STUDIES		Decreased oxygen affinity
STABILITY		Unstable
OCCURRENCE		Observed in a Greek family
OTHER INFORMATION		None

REFERENCES
1.		Vassilopoulos, G., Papassotiriou, J., Voskaridou, E., Stamoulakatou, A., Premetis, E., Galacteros, F., Wajcman, H., and Loukopoulos, D.: Abstract 255, Br. J. Haematol., 87 (Suppl. 1), 1994.
2.		Papassotiriou, I., Kister, J., Marden, M., Griffon, N., Wajcman, H., Stamoulakaatou, A., Loukopoulos, D., and Poyart, C.: Abstract 47, Nouv. Rev. Fr. d'Hematol., 38:27, 1996.

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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.