Hb Showa-Yakushiji	beta110(G12)Leu->Pro

CONTACT		Internal
HEMATOLOGY		Hemolytic anemia with hypochromia and microcytosis; reticulocytosis
ELECTROPHORESIS		No separations reported
CHROMATOGRAPHY		No separations reported
STRUCTURE STUDIES		Not reported; Hb X could not be isolated
DNA ANALYSES		DNA analyses revealed that leucine (CTG) at codon 110 was replaced by proline (CCG); this mutation was confirmed by restriction analysis because it created a new recognition site for the Msp I enzyme (CTGG->CCGG)
FUNCTION STUDIES		Not reported
STABILITY		Negative
OCCURRENCE		Found in a 55-year-old Japanese female
OTHER INFORMATION		beta-Thalassemic phenotype

REFERENCES
1.		Kobayashi, Y., Fukumaki, Y., Komatsu, N., Ohba, Y., Miyaji, T., and Miura, Y.: Blood, 70:1688, 1987.
2.		Naritomi, Y., Naito, Y., Nakashima, H., Yokota, E., and Imamura, T.: Hum. Genet., 80:11, 1988.

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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.