Table 4 Frequency and distribution of α and β thalassemia mutations in Southern Chinese provinces during 2012–2017
From: Gene spectrum analysis of thalassemia for people residing in northern China
Mutation | Type | Shang hai | Zhe jiang | Jiangsu | Anhui | Fujian | Jiangxi | Hubei | Hunan | Chong qing | Sichuan | Guizhou | Yunnan | Guang dong | Guangxi | Hainan |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
α-thalassemia | ||||||||||||||||
N (total) | 3 | 14 | 6 | 12 | 40 | 45 | 26 | 32 | 4 | 43 | 6 | 4 | 33 | 83 | 5 | |
NG_000006.1:g.26264_45564del19301 | α0 | 66.7% | 57.1% | 83.3% | 75.0% | 70.0% | 84.4% | 76.9% | 81.3% | 75.0% | 76.7% | 66.7% | 75.0% | 84.9% | 69.9% | 60.0% |
NG_000006.1:g.34164_37967del3804 | α+ | 33.3% | 28.6% | – | 16.7% | 22.5% | 11.1% | 11.5% | 12.5% | – | 11.6% | 16.7% | 25.0% | 9.1% | 15.7% | 40.0% |
-α4.2 | α+ | – | – | – | 8.3% | – | 2.2% | 7.7% | 3.1% | 25.0% | 11.6% | – | – | 3.0% | 9.6% | – |
HBA2:c.427 T > C | α+ | – | – | – | – | – | 2.2% | – | 3.1% | – | – | 16.7% | – | 3.0% | 3.6% | – |
HBA2:c.377 T > C | α+ | – | – | 16.67% | – | 5.0% | – | 3.9% | – | – | – | – | – | – | 1.2% | – |
HBA2:c.369C > G | α+ | – | 14.3% | – | – | 2.5% | – | – | – | – | – | – | – | – | – | – |
β-thalassemia | ||||||||||||||||
N (total) | 3 | 23 | 12 | 18 | 29 | 45 | 71 | 79 | 15 | 112 | 18 | 6 | 35 | 66 | 9 | |
HBB:c.316–197 C > T | β0 | 100.0% | 39.1% | 16.7% | 44.4% | 51.7% | 57.8% | 56.3% | 41.8% | 40.0% | 28.6% | 22.2% | 33.3% | 25.7% | 6.1% | 22.2% |
HBB:c.126_129 delCTTT | β0 | – | 21.7% | 25.0% | 16.7% | 34.5% | 26.7% | 25.4% | 22.8% | 46.7% | 20.5% | 50.0% | 16.7% | 42.9% | 42.4% | 55.6% |
HBB:c.52A > T | β0 | – | 26.1% | 33.3% | 33.3% | 10.3% | 4.4% | 11.3% | 16.5% | 13.3% | 47.3% | 27.8% | 33.3% | 17.1% | 36.4% | – |
HBB:c.-78A > G | β0 | – | 8.7% | – | – | – | 6.7% | 2.8% | 1.3% | – | 0.9% | – | – | 8.6% | 9.1% | – |
HBB:c.216_217 insA | β+ | – | – | 25.0% | – | – | – | 1.4% | 7.6% | – | 0.9% | – | – | – | 6.1% | 11.1% |
HBB:c.84_85insC | β+ | – | 4.4% | – | 5.6% | 3.5% | 2.2% | 1.4% | – | – | 0.9% | – | – | – | – | – |
HBB:c.130G > T | β0 | – | – | – | – | – | 2.2% | 1.4% | 3.8% | – | 0.9% | – | – | – | – | – |
HBB:c.79G > T | βE | – | – | – | – | – | – | – | 2.5% | – | – | – | 16.7% | – | – | 11.1% |
HBB:c.-79A > G | β0 | – | – | – | – | – | – | – | 1.3% | – | – | – | – | 5.7% | – | – |
HBB:c.45_46insG | β+ | – | – | – | – | – | – | – | 1.3% | – | – | – | – | – | – | – |
HBB:c.92 + 5G > C | β0 | – | – | – | – | – | – | – | 1.3% | – | – | – | – | – | – | – |