Table 3 Pan-ethnic Frequencies of Observed HBB and HFE Mutations & Variants
Name | IVS I-5 G > C | CD 8/9 + G | CD 30 G > C (“Monroe”) | CD 15 G > A | CD 16 -C | CD 5 -CT | CD 41/42 -TTCT | IVS I-1 G > T or G > A | del-619 | − 90 C > T | CD 26 G > A | CD 6 A > T | rs713040 c.9 T > C | rs35799536 G > C | H63D C > G |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Type | β(+) | β(0) | β(0) | β(0) | β(0) | β(0) | β(0) | β(0) | β(0) | β(+) | HbE | HbS | SNP | SNP | HFE |
Freq | 0.420 | 0.279 | 0.223 | 0.163 | 0.141 | 0.109 | 0.068 | 0.033 | 0.033 | 0.022 | 0.007 | 0.002 | 0.256 | 0.222 | 0.123 |