Table 3 Frequency and distribution of α and β thalassemia mutations in Northern Chinese provinces
From: Gene spectrum analysis of thalassemia for people residing in northern China
Mutation | Type | Beijing | Tianjin | Hebei | Shanxi | Inner Mongolia | Shandong | Henan | Shaanxi | Gansu | Xinjiang | Liaoning | Jilin | Heilong jiang |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
α-thalassemia | ||||||||||||||
N (total) | 15 | 1 | 10 | – | 6 | 5 | 6 | 1 | – | – | 2 | 1 | 2 | |
NG_000006.1:g.26264_45564del19301 | α0 | 73.3% | 100.0% | 60.0% | – | 66.7% | 80.0% | 83.3% | 100.0% | – | – | 50.0% | – | 100.0% |
NG_000006.1:g.34164_37967del3804 | α+ | 20.0% | – | 40.0% | – | 33.3% | 20.0% | 16.7% | – | – | – | – | 100.0% | – |
-α4.2 | α+ | 6.7% | – | – | – | – | – | – | – | – | – | 50.0% | – | – |
β-thalassemia | ||||||||||||||
N (total) | 36 | 6 | 26 | 10 | 3 | 11 | 12 | 9 | 4 | 1 | 6 | 4 | 3 | |
HBB:c.316–197 C > T | β0 | 36.1% | 33.3% | 38.5% | 70.0% | 33.3% | 72.7% | 50.0% | 22.2% | – | – | 16.7% | 50.0% | – |
HBB:c.126_129 delCTTT | β0 | 36.1% | 33.3% | 23.1% | 10.0% | – | 9.1% | 16.7% | 44.4% | 25.0% | – | 16.7% | – | 66.7% |
HBB:c.52A > T | β0 | 22.2% | 16.7% | 30.8% | 20.0% | 33.33% | 9.1% | 25.0% | 22.2% | 75.0% | 100.0% | 50.0% | 50.0% | – |
HBB:c.-78A > G | β0 | – | 16.7% | – | – | – | 9.1% | – | – | – | – | – | – | – |
HBB:c.216_217 insA | β+ | 2.8% | – | – | – | 33.3% | – | 8.3% | – | – | – | – | – | – |
HBB:c.84_85insC | β+ | – | – | 3.8% | – | – | – | – | – | – | – | – | – | – |
HBB:c.130G > T | β0 | – | – | – | – | – | – | – | – | – | – | – | – | 33.3% |
HBB:c.79G > T | βE | 2.8% | – | – | – | – | – | – | 11.1% | – | – | – | – | – |
HBB:c.-79A > G | β0 | – | – | – | – | – | – | – | – | – | – | 16.7% | – | – |
HBB:c.92 + 5G > C | β+ | – | – | 3.8% | – | – | – | – | – | – | – | – | – | – |