Hb Quong Sze alpha125(H8)Leu->Pro
CONTACT Internal
HEMATOLOGY Mild microcytosis, hypochromia in the heterozygote
ELECTROPHORESIS Hb X cannot be detected by starch gel, cellulose acetate, or IEF
STRUCTURE STUDIES Not possible; Hb X is detected by sequencing of amplified DNA
DNA ANALYSES A CTG->CCG mutation at codon 125 of the alpha2 gene (Ref. 3)
STABILITY Unstable; Hb X has never been observed
OCCURRENCE Found in Chinese families
OTHER INFORMATION Quantity in heterozygotes undetermined; observed in many Chinese families in combination with an alpha-thal-1 causing Hb H disease (alphaQSalpha/--)
1. Goossens, M., Lee, K.Y., Liebhaber, S.A., and Kan, Y.W.: Nature, 296:864, 1982.
2. Liebhaber, S.A. and Kan, Y.W.: J. Clin. Invest., 71:461, 1983.
3. Liang, S., Wen, X-J., and Lin, W-X.: Hemoglobin, 15:535, 1991.
4. Liang, R., Liang, S., Jiang, N.H., Wen, X-J., Zhao, J-B., Nechtman, J.F., Stoming, T.A., and Huisman, T.H.J.: Br. J. Haematol., 86:351, 1994.

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.