Table 5 Frequency and distribution of α and β thalassemia mutations according to different elevation
From: Gene spectrum analysis of thalassemia for people residing in northern China
Mutation | Type | Plain area | Mountain range | Continental plateau | Overall distribution in China | ||||
|---|---|---|---|---|---|---|---|---|---|
N | % | N | % | N | % | N | % | ||
α-thalassemia | |||||||||
Total | 236 | 100.0% | 116 | 100.0% | 53 | 100.0% | 405 | 100.0% | |
NG_000006.1:g.26264_45564del19301 | α0 | 181 | 75.1% | 82 | 74.0% | 40 | 75.5% | 303 | 74.8% |
NG_000006.1:g.34164_37967del3804 | α+ | 38 | 17.8% | 19 | 13.4% | 8 | 15.1% | 65 | 16.1% |
-α4.2 | α+ | 7 | 3.1% | 10 | 7.9% | 5 | 9.4% | 22 | 5.4% |
HBA2:c.427 T > C | α+ | 3 | 0.9% | 4 | 3.9% | – | – | 7 | 1.7% |
HBA2:c.377 T > C | α+ | 4 | 1.8% | 1 | 0.8% | – | – | 5 | 1.2% |
HBA2:c.369C > G | α+ | 3 | 1.3% | – | – | – | – | 3 | 0.7% |
χ2 test | χ2 = 5.53, | P = 0.063 | |||||||
χ2 = 0.11, | P = 0.947 | ||||||||
χ2 = 4.20, | P = 0.122 | ||||||||
β-thalassemia | |||||||||
Total | 380 | 100.0% | 166 | 100.0% | 126 | 100.0% | 672 | 100.0% | |
HBB:c.316-197C > T | β0 | 174 | 45.8% | 38 | 22.9% | 35 | 27.8% | 247 | 36.8% |
HBB:c.126_129 delCTTT | β0 | 96 | 25.3% | 69 | 41.6% | 25 | 19.8% | 190 | 28.3% |
HBB:c.52A > T | β0 | 66 | 17.4% | 43 | 25.9% | 60 | 47.6% | 169 | 25.2% |
HBB:c.-78A > G | β0 | 13 | 3.4% | 6 | 3.6% | 1 | 0.8% | 20 | 3.0% |
HBB:c.216_217insA | β+ | 11 | 2.9% | 6 | 3.6% | 2 | 1.6% | 19 | 2.8% |
HBB:c.84_85insC | β+ | 6 | 1.6% | – | – | 1 | 0.8% | 7 | 1.0% |
HBB:c.130G > T | β0 | 5 | 1.3% | 1 | 0.6% | 1 | 0.8% | 7 | 1.0% |
HBB:c.79G > T | βE | 2 | 0.5% | 3 | 1.8% | 1 | 0.8% | 6 | 0.9% |
HBB:c.-79A > G | β0 | 4 | 1.1% | – | – | – | – | 4 | 0.6% |
HBB:c.45_46insG | β+ | 1 | 0.3% | – | – | – | – | 1 | 0.1% |
HBB:c.92 + 1G > T | β0 | 1 | 0.3% | – | – | – | – | 1 | 0.1% |
HBB:c.92 + 5G > C | β+ | 1 | 0.3% | – | – | – | – | 1 | 0.1% |
χ2 test | χ2 = 29.74, | P<0.001 | |||||||
χ2 = 24.21, | P<0.001 | ||||||||
χ2 = 45.59, | P<0.001 | ||||||||