β Globin genotype and β thalassaemia frequencies from five different regions in Guangdong Province
| Genotype | Guangzhou | Zhanjiang | Zhuhai | Shaoguan | Shantou | Total | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N | % | N | % | N | % | N | % | N | % | N | % | |
| *Novel mutations found during our survey. | ||||||||||||
| CD41/42 (−TCTT) | 14 | 31.8 | 16 | 32.7 | 12 | 34.3 | 27 | 49.1 | 3 | 20.0 | 72 | 36.4 |
| IVS-2–654 (C→T) | 20 | 45.5 | 13 | 26.6 | 3 | 8.5 | 9 | 16.4 | 4 | 26.7 | 49 | 24.8 |
| −28 (A→G) | 5 | 11.4 | 8 | 16.3 | 9 | 25.7 | 7 | 12.8 | 4 | 26.7 | 33 | 16.7 |
| βE: CD26 (G→A) | 0 | 0 | 5 | 10.2 | 3 | 8.5 | 1 | 1.8 | 1 | 6.7 | 10 | 5.1 |
| CD17 (A→T) | 0 | 0 | 4 | 8.2 | 1 | 2.9 | 1 | 1.8 | 2 | 13.2 | 8 | 4.0 |
| CD71/72 (+A) | 2 | 4.5 | 1 | 2.0 | 2 | 5.7 | 2 | 3.6 | 0 | 0 | 7 | 3.5 |
| CD43 (G→T) | 0 | 0 | 0 | 0 | 2 | 5.7 | 5 | 9.1 | 0 | 0 | 7 | 3.5 |
| −29 (A→G) | 3 | 6.8 | 0 | 0 | 1 | 2.9 | 0 | 0 | 0 | 0 | 4 | 2.0 |
| CD27/28 (+C) | 0 | 0 | 1 | 2.0 | 1 | 2.9 | 2 | 3.6 | 0 | 0 | 4 | 2.0 |
| β Gene deletion* | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1.8 | 0 | 0 | 1 | 0.5 |
| Undetermined | 0 | 0 | 1 | 2.0 | 1 | 2.9 | 0 | 0 | 1 | 6.7 | 3 | 1.5 |
| Total | 44 | 100 | 49 | 100 | 35 | 100 | 55 | 100 | 15 | 100 | 198 | 100 |