β-Globin gene mutation spectrum
| Mutation type | HGVS name | Number | Ratio (%) | Class |
| Codons 41/42 (-TTCT) | HBB: c.124_127delTTCT | 29 | 35.8 | Common |
| IVS-II-654 (C>T) | HBB: c.316–197C>T | 14 | 17.3 | Common |
| Codon 17 (A>T) | HBB: c.52A>T | 8 | 9.9 | Common |
| −28 (A>G) | HBB: c.-78A>G | 7 | 8.6 | Common |
| −50 (G>A) | HBB: c.-100G>A | 5 | 6.2 | Novel |
| Hb E | HBB: c.79G>A | 4 | 4.9 | Common |
| HBB: c.*+129T>A | HBB: c.*+129T>A | 3 | 3.7 | Novel |
| Codons 71/72 (+A) | HBB: c.216_217insA | 3 | 3.7 | Common |
| Codon 43 (G>T) | HBB: c.130G>T | 2 | 2.5 | Common |
| HBB: c.-64G>C | HBB: c.-64G>C | 2 | 2.5 | Novel |
| HBB: c.-180G>C | HBB: c.-180G>C | 1 | 1.2 | Novel |
| HBB: c.*+5G>A | HBB: c.*+5G>A | 1 | 1.2 | Novel |
| Hb New York | HBB: c.341T>A | 1 | 1.2 | Rare |
| HBB: c.-113A>G | HBB: c.-113A>G | 1 | 1.2 | Novel |
| Total | 81 | 100 |