TABLE XVII.   Point Mutations in the Promoter Segments of the GGamma- and AGamma-Globin Genes Resulting in a Nondeletional HPFH[1]

GGamma Mutation % Hb F in Heterozygotes AGamma Mutation % Hb F in Heterozygotes
-202, C->G 14.3-21.0 (AF)
18.0-23.5 (SAF)
-202, C->T 1.6-3.9 (SAF)
-200, +C 18.0-28.0 (AF)    
    -198, T->C 1.8-13.0 (AF)
    -196, C->T 12.0-16.0 (AF)
    -195, C->G 4.5-7.0 (AF)
-175, T->C 22.1 (AF)
29.5 (SAF)
-175, T->C 37.0-38.5 (AF)
37.3 (CAF)
40.4 (SAF)
    -117, G->A 7.1-15.6 (AF)
-114, C->G 8.6 (AF)    
-114, C->T 11.0-14.0 (AF) -114, C->T 4.7-4.8 (AF)
-110, A->C 0.6-0.8 (AF) 13 bp deletion
(-114 thru -102)
30.1-31.8 (SAF)

[1]   Excluded are the -161 (G->A) and -158 (C->T) mutations in the Ggamma promoter; these are listed sub-IV-b. AF is heterozygote; SAF or CAF are heterozygotes with a betaS or betaC mutation in trans to the nondeletional HPFH determinant.

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.