MUTATION -87 (C->A)
  -90  -85 
| |
CCACACCCT->
CCACACACT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM The C->A mutation likely decreases the transcription of the beta-globin gene because of decreased binding of transcription factors
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; ASO
HEMATOLOGY IN HETEROZYGOTE(S) Father is the likely carrier but he was not studied
HEMATOLOGY IN HOMOZYGOTE(S) Not observed
OCCURRENCE In one Black family
HAPLOTYPE Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) The proband is a compound heterozygote for the -88 (C->T) and the -87 (C->A) mutations; Hb 9.4 g/dl; PCV .30 l/l; MCV 59.5 fl; reticulocytes 2.7%; Hb A2 10.4%; Hb F 35.6%; Hb A 54%; thalassemia intermedia
OTHER INFORMATION None
       
REFERENCES
1. Coleman, M.B., Steinberg, M.H., Harrell, A.H., Plonczynski, M.W., Walker, A.M., and Adams, J.G., III: Hemoglobin, 16:399, 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.