Codons.25-26.(+T),.GGT.GAG(Gly-Glu)-@GGT.html


MUTATION		Codons 25/26 (+T); GGT·GAG(Gly-Glu)->GGT·T·GAG(Gly-Term)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Frameshift leading to a new codon 26 which is a terminating codon (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Found in the mother of the patient; she was not studied
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Tunisian family
HAPLOTYPE		Not studied
FOUND IN COMBINATION WITH ABNORMAL HB(S)		With Hb S causing severe disease requiring blood transfusions; hematology prior to transfusion: Hb 7.9 g/dl; MCV 74 fl; MCV 22 pg; Hb A₂ 6.7%; Hb F 14%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None reported
OTHER INFORMATION		None


REFERENCES
1.		Fattoum, S., Guemira, F., Öner, C., Öner, R., Li, H-W., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 15:11, 1991.

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.