Table 3.
Genotyping of β-thalassemia in Putian
| Genotype | Number of cases(n) | Constituent ratio (%) | |
|---|---|---|---|
| Common β-thalassemia | βIVS−II−654/βN | 394 | 48.76 |
| βCD41–42/βN | 221 | 27.35 | |
| βCD17/βN | 84 | 10.40 | |
| β−28/βN | 41 | 5.07 | |
| βCD26/βN | 36 | 4.46 | |
| βCD27–28/βN | 7 | 0.87 | |
| βCD71–72/βN | 4 | 0.50 | |
| βInt/βN | 3 | 0.37 | |
| βCD43/βN | 3 | 0.37 | |
| βCap+40–43/βN | 2 | 0.25 | |
| βCD17/βIVS−II−654 | 1 | 0.12 | |
| β−29/βN | 1 | 0.12 | |
| βCD41–42/βCD17 | 1 | 0.12 | |
| βCD41–42/β−28 | 1 | 0.12 | |
| βIVS−I−5/βN | 1 | 0.12 | |
| βCD14–15/βN | 1 | 0.12 | |
| Rare β-thalassemia | HBB: c.92G > T | 2 | 0.25 |
| HBB: c.91 A > G | 1 | 0.12 | |
| HBB: c.170G > A | 1 | 0.12 | |
| HBB: c.113T > A | 1 | 0.12 | |
| HBB: c.341T > A | 1 | 0.12 | |
| Total | 807 | 100.00 |