MUTATION		Codons 27/28 (+C); GCC·CTG(Ala·Ser)->GCC·C·CTG
AMINO ACID REPLACEMENT		None known
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift results in a change in the reading frame with a new terminating codon at codon 43 (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.4-14.9 g/dl; MCV 64-66 fl; Hb A2 4.7-5.0%; Hb F 1.8-3.6%
HEMATOLOGY IN HOMOZYGOTE(S)		None observed
OCCURRENCE		In a few Chinese families
HAPLOTYPE		Incompletely determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The proband was a compound heterozygote with IVS-II-654 (C->T); phenotype: severe beta-thal major
OTHER INFORMATION		None

REFERENCES
1.		Cai, S., Chui, D.H.K., Ng, J., Poon, A.O., Freedman, M.H., and Olivieri, N.F.: Am. J. Hematol., 37:6, 1991.
2.		Lin, L-I., Lin, K-S., Lin, K-H., and Chang, H-C.: Am. J. Hum. Genet., 48:809, 1991.

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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.