Hb Mizuho	beta68(E12)Leu->Pro

CONTACT		Internal
HEMATOLOGY		Severe hemolytic anemia in the heterozygote
ELECTROPHORESIS		No abnormal Hb detected by routine procedures
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES		A CTC->CCC mutation at codon 68 (Refs. 3 and 4)
FUNCTION STUDIES		Not determined
STABILITY		Unstable
OCCURRENCE		Found in a Japanese girl, an Italian girl, a Caucasian boy from Kentucky, and a Dutch boy; all are de novo mutations
OTHER INFORMATION		Clinical improvement after splenectomy

REFERENCES
1.		Ohba, Y., Miyaji, T., Matsuoka, M., Sugiyama, K., Suzuki, T., and Sugiura, T.: Hemoglobin, 1:467, 1977.
2.		Labotka, R.J., Vida, L.N., and Honig, G.R.: Hemoglobin, 14:129, 1990.
3.		Keeling, M.M., Bertolone, S.J., Baysal, E., Gu, Y-C., Cepreganova, B., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 15:477, 1991.
4.		Harthoorn-Lasthuizen, E.J., Nabben, F.A.E., Kazanetz, E.G., Gu, L-H., Mol-chanova, T.P., and Huisman, T.H.J.: Hemoglobin, 19:203, 1995.

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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.