MUTATION Codon 61 (A->T); AAG(Lys)->TAG(stop codon)
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM This A->T mutation changes codon 61 into a stop codon causing a premature termination of translation
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing ; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S) The father of the proband is heterozygous for this allele: Hb 11.1 g/dl; MCV 65 fl; Hb A2 4.1%; Hb F 0.8%
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE Found in one Black family from Georgia, USA
HAPLOTYPE [ - - - - - + + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) The proband is a young compound heterozygote [codon 6(-A)/codon 61(A->T)] with severe thalassemia major: Hb 6.9 g/dl; MCV 77.9 fl; MCH 24.7 pg; Hb A2 1.5%; Hb F 98.5%
OTHER INFORMATION None
       
REFERENCES
1. Gonzalez-Redondo, J.M., Stoming, T.A., Lanclos, K.D., Gu, Y.C., Kutlar, A., Kutlar, F., Nakatsuji, T., Deng, B., Han, I.S., McKie, V.C., and Huisman, T.H.J.: Blood, 72:1007, 1988.


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.