MUTATION Codon 5 (-CT); CCT(Pro)->C--
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM This frameshift results in the termination of translation at codon 21 (TGA)
IDENTIFICATION Sequencing of amplified DNA
HEMATOLOGY IN HETEROZYGOTE(S) Hb 10.2-11.8 g/dl; MCV 68-81 fl; MCH 18.8-20.7 pg; Hb A2 5.2-5.5%; Hb F 1-2%
HEMATOLOGY IN HOMOZYGOTE(S) None known
OCCURRENCE Found in Greeks, Macedonians, Turks; allele is quite rare; see also Tables IV, V, VI, and IX
HAPLOTYPE V; [+ O - - - - + -]
FOUND IN COMBINATION WITH ABNORMAL HB(S) None known
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) IVS-I-1 (G->A)
OTHER INFORMATION The compound heterozygote [FSC 5(-CT)/IVS-I-5 (G->A)] has a severe form of thalassemia major requir-ing multiple transfusions
       
REFERENCES
1. Kollia, P., Gonzalez-Redondo, J.M., Stoming, T.A., Loukopoulos, D., Politis, C., and Huisman, T.H.J.: Hemoglobin, 13:597, 1989.


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.