Hb Fukuyama	beta77(EF1)His->Tyr

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate by IEF; Hb X focuses with Hb A1c
CHROMATOGRAPHY		Hb X and Hb A separate by cation exchange HPLC; Hb X elutes ahead of Hb A together with Hb A1c; the betaX and betaA chains separate by CM-cellulose chromatography
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES		A CAC->TAC mutation at codon 77 (Ref. 4)
FUNCTION STUDIES		Not reported
STABILITY		Slightly abnormal
OCCURRENCE		Found in a 64-year-old Japanese male, a Caucasian family in the United States; an Indonesian woman, and two unrelated Swedish women
OTHER INFORMATION		Quantity in the heterozygote 31-34% (a subject with an alpha-thal-1 heterozygosity) (Ref. 3); heterozygote with four alpha-globin genes has 47% Hb X

REFERENCES
1.		Hidaka, K., Iuchi, I., Miyake, K., Nakahara, H., and Iwakawa, G.: Hemoglobin, 12: 391, 1988.
2.		Moo-Penn, W.F., Hine, T.K., Johnson, M.H., Jue, D.L., Piersma, H., Therrell, B., Jr., and Chu, A.: Hemoglobin, 15:97, 1991.
3.		Smit, J.W., Deggeller, K., Tamminga, R.Y.J., Wilson, J.B., Webber, B.B., and Huisman, T.H.J.: Hemoglobin, 15:331, 1991.
4.		Jeppsson, J-O. and Landin, B.: Hemoglobin, 17:303, 1993.

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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.