MUTATION		Codon 95 (+A); AAG(Lys)->AAAG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The introduction of A in codon 95 (or between codons 94 and 95) changes the reading frame with termination of translation at codon 101 which is a stop codon (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Thai family
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		In combination with Hb E in a 31-year-old female: Hb 7.6 g/dl; MCV 78 fl; MCH 24 pg; Hbs E+A2 40.8%; Hb F 59.2%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		Mother is homozygous for Hb E

REFERENCES
1.		Winichagoon, P., Fucharoen, S., Wilairat, P., Chihara, K., Fukumaki, Y., and Wasi, P.: Biochim. Biophys. Acta, 1139:280, 1992.

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This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 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 permission in writing from the Author.