Table 5.
Allele frequencies of α-thalassemia in Putian
| α genotype | HGVS Nomenclature | Allele | frequency(%) |
|---|---|---|---|
| --SEA | NC_000016.10:g.165401_184701del | 1102 | 71.79 |
| -α3.7 | NC_000016.10:g.173384_177187del | 269 | 17.52 |
| α4.2 | NC_000016.10:g.169818_174075del | 52 | 3.39 |
| ααCS | HBA2:c.427T > C | 36 | 2.35 |
| ααWS | HBA2:c.369 C > G | 29 | 1.89 |
| ααQS | HBA2:c.377T > C | 26 | 1.69 |
| αααanti4.2 | NC_000016.10:g.169818_174075dup | 6 | 0.39 |
| --THAI | NC_000016.10:g.149863_183312del | 6 | 0.39 |
| CD 74 (GAC > CAC) | HBA1:c.223 (G > C) | 3 | 0.20 |
| IVS II-55 G > T | HBA1:c.300 + 55 (G > T) | 1 | 0.07 |
| CD 121 GTG > ATG | HBA1 :c.364 (G > A) | 1 | 0.07 |
| CD 16 (AAG > TAG) | HBA2:c.49 (A > T) | 1 | 0.07 |
| CD 11 AAG > CAG | HBA2 :c.34 (A > C) | 1 | 0.07 |
| αααanti3.7 | NC_000016.10:g.173384_177187dup | 1 | 0.07 |
| Hkαα | N/A | 1 | 0.07 |
| Total | 1535 | 100.00 |