Hb Malay	beta19(B1)Asn->Ser

CONTACT		External
HEMATOLOGY		Mild microcytosis and hypochromia in the heterozygote, which are more severe in the homozygote
ELECTROPHORESIS		No separation reported
CHROMATOGRAPHY		No separation of Hb X and Hb A by cation exchange HPLC; betaX and betaA can be separated by reversed phase HPLC
STRUCTURE STUDIES		Tryptic digestion; reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		An AAC->AGC mutation at codon 19
FUNCTION STUDIES		Not reported
STABILITY		Not reported
OCCURRENCE		Discovered in Malay patients; as heterozygotes, homozygotes, and in combination with Hb E
OTHER INFORMATION		The AAC->AGC mutation at codon 19 creates an alternative splicing site between codons 17 and 18, reducing the efficiency of the normal donor site at IVS-I to about 60%; this makes Hb Malay a "thalassemic" Hb type

REFERENCES
1.		Yang, K.G., Kutlar, F., George, E., Wilson, J.B., Kutlar, A., Stoming, T.A., Gonzalez-Redondo, J.M., and Huisman, T.H.J.: Br. J. Haematol., 72:73, 1989.

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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.