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)
OCCURRENCE Found in a 55-year-old Japanese female
OTHER INFORMATION beta-Thalassemic phenotype
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.

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.