Hb Mizuho beta68(E12)Leu->Pro
CONTACT Internal
HEMATOLOGY Severe hemolytic anemia in the heterozygote
ELECTROPHORESIS No abnormal Hb detected by routine procedures
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)
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
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.

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.