Codon.54.(-T),.GTT(Val)-@GT-.html


MUTATION		Codon 54 (-T); GTT(Val)->GT-

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The deletion of T from codon 54 results in a frameshift with a nonsense codon at codon 60 (TGA) and premature termination of translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 9.5-12.3 g/dl; MCV 58-66 fl; reticulocytes 56-69 x 10⁹/l; Hb A₂ 5.1-6.2%
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In an Algerian family; the proband is a homozygote; also in a Swedish family
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		None


REFERENCES
1.		Landin, B. and Berglund, S.: Eur. J. Haematol., 57:182, 1996.
2.		Goossens, M.: Personal communication, 1997.

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.