MUTATION IVS-II-844 (C->G); 
     840  G    850  
      |   ^     |   
TTATCTTCCTCCCACAG^CT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM One would expect that this C->G change would reduce the efficiency of splicing at the normal site
IDENTIFICATION Amplification
HEMATOLOGY IN HETEROZYGOTE(S) Not given
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE In an Italian family (Southern Italy)
HAPLOTYPE Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) The proband was a 45-year-old female with mild anemia (Hb 8.2 g/dl), microcytosis (MCV 67 fl; MCH 18 pg); Hb F 5.0%; Hb A2 5.7%; splenomegaly; gallstones; probably a compound heterozygote; second mutation could not be identified. She married a normal male; of her four children one had a "typical beta-thal carrier phenotype". The allele has also been observed with the -92 (C->T) and the -101 (C->T) mutations resulting in silent or mild thalassemia
OTHER INFORMATION None
       
REFERENCES
1. Murru, S., Loudianos, G., Deiana, M., Camaschella, C., Sciarratta, G.V., Agosti, S., Parodi, M.I., Cerruti, P., Cao, A., and Pirastu, M.: Blood, 77:1342, 1991.
2. Rosatelli, M.C., Pischedda, A., Meloni, A., Saba, L., Pomo, A., Travi, M., Fattore, S., and Cao, A.: Br. J. Haematol., 88:562, 1994.

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.