MUTATION IVS-II-4,5 (-AG); 
104                  
AGG^GTGAGT->AGGGTG--T
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL Possibly beta°
MECHANISM This deletion will likely abolish splicing at the normal site
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; HinfI digestion (restriction site is eliminated)
HEMATOLOGY IN HETEROZYGOTE(S) Not reported
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE In a Portuguese family
HAPLOTYPE Type V
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION None
       
REFERENCES
1. Faustino, P., Osório-Almeida, L., Espírito-Santo, D., Gonçalves, J., Romão, L., Carmo Martins, M., Maia Marques, M., and Lavinha, J.: Hum. Genet., 89:573, 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.