Table 2.
Genotyping of α-thalassemia in Putian
| Genotype | Number of cases(n) | Constituent ratio (%) | |
|---|---|---|---|
| Common α-thalassemia | --SEA/αα | 1020 | 71.93 |
| -α3.7/αα | 199 | 14.03 | |
| --SEA/-α3.7 | 37 | 2.61 | |
| -α4.2/αα | 32 | 2.26 | |
| ααCS/αα | 31 | 2.19 | |
| ααWS/αα | 23 | 1.62 | |
| ααQS/αα | 19 | 1.34 | |
| --SEA/-α4.2 | 12 | 0.85 | |
| -α3.7/-α3.7 | 8 | 0.56 | |
| --SEA/ααQS | 3 | 0.21 | |
| --SEA/ααWS | 2 | 0.14 | |
| --SEA/--SEA | 2 | 0.14 | |
| -α3.7/ααCS | 2 | 0.14 | |
| -α3.7/-α4.2 | 1 | 0.07 | |
| -α3.7/ααQS | 1 | 0.07 | |
| ααQS/ααQS | 1 | 0.07 | |
| -α4.2/-α4.2 | 1 | 0.07 | |
| -α4.2/ααQS | 1 | 0.07 | |
| --SEA/ααCS | 1 | 0.07 | |
| ααWS/ααWS | 1 | 0.07 | |
| Rare α-thalassemia | αααanti4.2 | 6 | 0.42 |
| --THAI/αα | 4 | 0.28 | |
| HBA1:c.223G > C | 3 | 0.21 | |
| Hkαα/--SEA | 1 | 0.07 | |
| -α3.7/--THAI | 1 | 0.07 | |
| -α4.2/--THAI | 1 | 0.07 | |
| αααanti3.7 | 1 | 0.07 | |
| HBA1:c.300 + 55G > T | 1 | 0.07 | |
| HBA1 :c.364G > A | 1 | 0.07 | |
| HBA2:c.49 A > T | 1 | 0.07 | |
| HBA2 :c.34 A > C | 1 | 0.07 | |
| Total | 1418 | 100.00 |