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.