MUTATION -28 (A->C) 
 -30  -25 
  |    |  
CATAAAAG->
CATACAAG
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM Decreased beta-globin gene transcription because of reduced binding of erythroid factors
IDENTIFICATION Cloning of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Not available
HEMATOLOGY IN HOMOZYGOTE(S) The proband and his brother may be homozygous for this mutation; transfusion requirement started 6-12 months after birth
OCCURRENCE In a Kurdish Jewish family
HAPLOTYPE Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None
OTHER INFORMATION None
       
REFERENCES
1. Poncz, M., Ballantine, M., Solowiejczyk, D., Barak, I., Schwartz, E., and Surrey, S.: J. Biol. Chem., 257: 5994, 1982.

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.