Codon.24,.GGT(Gly),.(-G,.+CAC).html


MUTATION		Codon 24; GGT(Gly); (-G; +CAC)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Deletion and insertion leading to a shift in the reading frame with a termination at the new codon 61 (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		No details provided; the father transmitted the codon 24 (-G; +CAC) allele; Hb A₂ 5.1%; the authors state that he has a fully recessive beta-thal phenotype
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In an Egyptian girl with thalassemia major
HAPLOTYPE		I [ O - - - - + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With the IVS-I-6 (T->C) allele; hematology at the age of 8 months: Hb 4.5 g/dl; PCV .154 l/l; RBC 2.06 x 10¹²/l
OTHER INFORMATION		None


REFERENCES
1.		Deidda, G., Novelletto, A., Hafez, M., El-Ziny, M., Terrenato, L., and Felicetti, L.: Br. J. Haematol., 79:90, 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.