MUTATION IVS-II-848 (C->G); 
       105         105
CAACAG^CTC->CAAGAG^CTC
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM Replacement of C at position 848 next to the AG acceptor splicing site decreases the efficiency of splicing
IDENTIFICATION Cloning of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Hb 9.9-10.7 g/dl; MCV 66-72 fl; MCH 20.1-21.2 pg; Hb A2 6.4-6.8%; Hb F 1.2-2.1%
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE In a Japanese family
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None
OTHER INFORMATION None
       
REFERENCES
1. Hattori, Y., Yamamoto, Ku., Yamashiro, Y., Ohba, Y., Miyamura, S., Yamamoto, Ki., Matsuno, Y., Morishita, M., Miyaji, T., and Era, T.: Hemoglobin, 16:93, 1992.

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.