MUTATION		Codon 37 (G->A); TGG(Trp)->TGA(stop codon)
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This mutation changes the codon 37 (for Trp) to a nonsense codon terminating translation
IDENTIFICATION		DNA restriction analysis; digestion with AvaII; detection of the frameshift with an oligonucleotide probe; amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Original patient (Ref. 1) is a homozygote
OCCURRENCE		In a Saudi Arabian family and in Jordan; high incidence in the Ebro Delta in the coastal region of the Iberian Peninsula
HAPLOTYPE		Type I
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None reported
OTHER INFORMATION		None

REFERENCES
1.		Boehm, C.D., Dowling, C.E., Waber, P.G., Giardina, P.J.V., and Kazazian, H.H., Jr.: Blood, 67:1185, 1986.
2.		Gallano, P., Girodon, E., Ghanem, N., Font, Ll., Del Rio, E., Martin, J., Goossens, M., and Baiget, M.: Br. J. Haematol., 81:126, 1992.
3.		Sadiq, M.F.G. and Huisman, T.H.J.: Hemoglobin, 18:325, 1994.

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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.