Table 3.
Mutation Type and Number of Alleles Detected
| Number | Mutation type | MeltPro HBB assay | RDB | Sequencing | Phenotype |
|---|---|---|---|---|---|
| 1 | c.124-127delTTCT | 336 | 336 | ND | β0 |
| 2 | c.316-197C>T | 185 | 185 | ND | β+ |
| 3 | c.52A>T | 166 | 166 | ND | β0 |
| 4 | c.-78A>G | 127 | 127 | ND | β+ |
| 5 | c.79G>A | 77 | 77 | ND | HbE |
| 6 | c.216-217insA | 68 | 68 | ND | β0 |
| 7 | c.130G>T or c.113G>A⁎ | 26 | 23 | 3 | β0 |
| β0 | |||||
| 8 | c.92 + 1G>T or c.92 + 5G>C⁎ | 25 | 25 | ND | β0 |
| β+ (severe) | |||||
| 9 | c.-79A>G | 21 | 21 | ND | β+ |
| 10 | c.84-85insC | 17 | 17 | ND | 0 |
| 11 | c.315 + 5G>C | 9 | NT | 9 | β+ |
| 12 | c.45-46insG | 8 | 8 | ND | β0 |
| 13 | c.216-217insT | 2 | NT | 2 | β0 |
| 14 | c.48-49insG | 2 | NT | 2 | β0 |
| 15 | c.-140C>T | 1 | NT | 1 | β+ |
| 16 | c.-123A>T | 1 | NT | 1 | β+ |
| 17 | c.-82C>A | 2 | 2 | ND | β+ |
| 18 | c.-81A>C or c.-80T>C⁎ | 3 | 2 | 1 | β+ |
| β+ | |||||
| 19 | c.91A>G | 1 | NT | 1 | β0 |
| 20 | c.115delA | 1 | NT | 1 | β0 |
| 21 | c.315 + 2delT | 1 | NT | 1 | β0 |
| 22 | c.162delT† | NT | NT | 3 | Dominant |
| 23 | c.2T>G† | NT | 3 | ND | β0 |
| 24 | Wild type | 965 | 959 | ND | NA |
| Total | 2044 | 2019 | 25 | NA |
NA, not applicable; ND, not done; NT, not tested; RDB, reverse dot blot method.
⁎
These mutations are judged to be the same type within pairs using the MeltPro HBB assay.
†
Mutation detected using RDB but not the MeltPro HBB assay.