α-Globin gene mutation spectrum
| Mutation type | HGVS name | Number | Ratio (%) | Class |
| --SEA | NG_000006.1:g.26264_45564del19301 | 96 | 42.1 | Common |
| -α3.7 | NG_000006.1:g.34164_37967del3804 | 61 | 26.8 | Common |
| Hb Westmead | HBA2: c.369C>G | 24 | 10.5 | Common |
| -α4.2 | NA | 20 | 8.8 | Common |
| Hb Constant Spring | HBA2: c.427T>C | 9 | 3.9 | Common |
| Hb Quong Sze | HBA2: c.377T>C | 4 | 1.8 | Common |
| Hb G-Honolulu | HBA2: c.91G>C | 4 | 1.8 | Rare |
| Hb Hekinan II | HBA1: c.84G>T | 3 | 1.3 | Rare |
| HBA2: c.46G>A | HBA2: c.46G>A | 2 | 0.9 | Rare |
| Hb Owari | HBA1: c.364G>A | 2 | 0.9 | Rare |
| HBA2: c.190G>A | HBA2: c.190G>A | 1 | 0.4 | Rare |
| HBA1: c.412A>G | HBA1: c.412A>G | 1 | 0.4 | Novel |
| Alpha2 codon 30 del GAG | HBA2: c.91_93delGAG | 1 | 0.4 | Rare |
| Total | 228 | 100 |