Table 2 Frequency and distribution of α and β thalassemia mutations
From: Gene spectrum analysis of thalassemia for people residing in northern China
Mutation | Type | Northern region | Southern region | Overall distribution in China | |||
|---|---|---|---|---|---|---|---|
N | % | N | % | N | % | ||
α-thalassemia | |||||||
Total | 49 | 100.0% | 356 | 100.0% | 405 | 100.0% | |
NG_000006.1:g.26264_45564del19301 | α0 | 35 | 71.4% | 268 | 75.2% | 303 | 74.8% |
NG_000006.1:g.34164_37967del3804 | α+ | 12 | 24.5% | 53 | 14.9% | 65 | 16.1% |
-α4.2 | α+ | 2 | 4.1% | 20 | 5.6% | 22 | 5.4% |
HBA2:c.427 T > C | α+ | – | – | 7 | 2.0% | 7 | 1.7% |
HBA2:c.377 T > C | α+ | – | – | 5 | 1.4% | 5 | 1.2% |
HBA2:c.369C > G | α+ | – | – | 3 | 0.9% | 3 | 0.7% |
χ2 test | χ2 = 2.582, p = 0.275 | ||||||
β-thalassemia | |||||||
Total | 131 | 100.0% | 541 | 100.0% | 672 | 100.0% | |
HBB:c.316-197C > T | β0 | 52 | 39.7% | 195 | 36.0% | 247 | 36.8% |
HBB:c.126_129 delCTTT | β0 | 33 | 25.2% | 157 | 29.0% | 190 | 28.3% |
HBB:c.52A > T | β0 | 35 | 26.7% | 134 | 24.8% | 169 | 25.3% |
HBB:c.-78A > G | β0 | 2 | 1.5% | 18 | 3.3% | 20 | 3.0% |
HBB:c.216_217insA | β+ | 3 | 2.3% | 16 | 3.0% | 19 | 2.8% |
HBB:c.84_85insC | β+ | 1 | 0.8% | 6 | 1.1% | 7 | 1.0% |
HBB:c.130G > T | β0 | 1 | 0.8% | 6 | 1.1% | 7 | 1.0% |
HBB:c.79G > T | βE | 2 | 1.5% | 4 | 0.7% | 6 | 0.9% |
HBB:c.-79A > G | β0 | 1 | 0.8% | 3 | 0.6% | 4 | 0.6% |
HBB:c.45_46insG | β+ | – | – | 1 | 0.2% | 1 | 0.1% |
HBB:c.92 + 1G > T | β0 | – | – | 1 | 0.2% | 1 | 0.1% |
HBB:c.92 + 5G > C | β+ | 1 | 0.8% | – | – | 1 | 0.1% |
χ2 test | χ2 = 2.409, p = 0.661 | ||||||