MUTATION Codon 11 (-T); GTT(Val)->GT-
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM This frameshift results in termination of translation at codon 18 (TGA)
IDENTIFICATION Sequencing of amplified DNA; RsaI digestion
HEMATOLOGY IN HETEROZYGOTE(S) Hb 9.5-13.0 g/dl; MCV 60-64 fl; MCH 17.0-18.5 pg; Hb A2 5.5-5.6%; Hb F 1.4-4.4%
HEMATOLOGY IN HOMOZYGOTE(S) None known
OCCURRENCE Mexican family (Mestizo-Mexican)
HAPLOTYPE [- O + + - - + -]
FOUND IN COMBINATION WITH ABNORMAL HB(S) None known
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Found in combination with the -28 (A->C) allele causing severe anemia [Hb 5.4 g/dl; MCV 85 fl; MCH 30 pg; Hb A2; Hb F no data (transfused)]
OTHER INFORMATION None
       
REFERENCES
1. Economou, E.P., Antonarakis, S.E., Dowling, C.C., Ibarra, B., del Mora, E., and Kazazian, H.H., Jr.: Genomics, 11:474, 1991.
2. Perea, F.J., Amparo Esparza, M., Villalobos-Arambula, A.R., Ibarra, B., and Old, J.M.: Am. J. Hematol., 51:240, 1996.


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.