MUTATION IVS-II-843 (T->G); 
     840 G     850  
      |  ^      |   
TTATCTTCCTCCCACAG^CT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM This mutation likely decreases splicing at the normal site
IDENTIFICATION Cloning of the beta-globin gene; DNA sequencing; elimination of an MnlI restriction site
HEMATOLOGY IN HETEROZYGOTE(S) Six heterozygotes: MCV 61-84 fl (average 68 fl); Hb A2 4.0-5.7% (average 4.8%)
HEMATOLOGY IN HOMOZYGOTE(S) The 40-year-old female proband had thalassemia intermedia: Hb 9.0 g/dl; Hb F 32.0%; Hb A2 3.0%; rarely transfused (only during pregnancies)
OCCURRENCE In an Algerian family
HAPLOTYPE Mutation found on two haplotypes
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION None
       
REFERENCES
1. Beldjord, C., Lapoumeroulie, C., Pagnier, J., Benabadji, M., Krishnamoorthy, R., Labie, D., and Bank, A.: Nucleic Acids Res., 16:4927, 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.