MUTATION		Codon 22 (G->T); GAA(Glu)->TAA(stop codon)
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This change of one nucleotide results in termination of translation at codon 22
IDENTIFICATION		Amplification of the beta-globin gene; denaturing gradient gel electrophoresis; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		A family from the Reunion Island
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		The proband was a Hb E-beta-thal compound heterozygote
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		None

REFERENCES
1.		Ghanem, N., Girodon, E., Vidaud, M., Martin, J., Fanen, P., Plassa, F., and Goossens, M.: Hum. Mutat., 1:229, 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.