MUTATION -32 (C->A) 
 -30  -25 
  |    |  
CATAAAAG->
AATAAAAG
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM Decreased transcription of the beta-globin gene due to decreased binding of transcriptional factors
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Four members of the family were heterozygotes; Hb 9.9-12.2 g/dl; MCV 54-59 fl; MCH 17.6-23.2 pg; Hb A2 6.0%; 6.9%; 7.1%; 8.7%; Hb F 0.8-2.1%
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE In a Taiwanese 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. Lin, L-I., Lin, K-S., Lin, K-H., and Cheng, T-Y.: Am. J. Hum. Genet., 50:237, 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.