MUTATION The 13 bp deletion (-CAATAGCCTTGAC at -114 through -102)
 
IDENTIFICATION Cloning; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Not observed
HEMATOLOGY IN HOMOZYGOTE(S) Not observed
OCCURRENCE In a Black family
HAPLOTYPE Type 4 [- - - - - + - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S) With Hb S (n=2): Hb A2 2.1, 2.1%; Hb S 44.7, 47.5%; Hb F 31.8, 30.1%; Ggamma 18.8, 9.9%; Agamma 81.2, 90.1%; Hb A 21.4, 20.3%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None
MECHANISM Part of the CCAAT motif is deleted preventing the binding of the transacting factors
       
REFERENCES
1. Gilman, J.G., Mishima, N., Wen, X.J., Stoming, T.A., Lobel, J., and Huisman, T.H.J.: Nucleic Acids Res., 16:10635, 1988.


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.