Table 1.
Prevalent beta-globin mutations in thalassaemia intermedia and thalassaemia major in patients of Mediterranean origin.7
| Mutation | Thalassemia Intermedia n(%) | Thalassemia major n(%) |
|---|---|---|
| cd 39 C->T | 72 (24) | 136 (53.5) |
| IVSI-110 G->T | 52 (17) | 58 (23) |
| IVSI-6 T->C | 94 (31.5) | 16 (6.3) |
| IVSI-1 G->A | 8 (2.7) | 19 (7.4) |
| IVSII-1 G->A | 14 (4.7) | 10 (3.9) |
| IVSII-745 C->G | 11 (3.7) | 9 (3.5) |
| −101 C->T | 10(3.3) | - |
| cd6 - A | 10(3.3) | 3 (1.2) |
| −87 C->G | 8 (2.7) | - |
| δβSiciliana | 13 (4.3) | - |
| Lepore Boston | 2 (0.7) | - |
| IVSI-5 G->A | - | 1 (0.4) |
| IVSI-5 G->C | 1 (0.3) | - |
| IVSII-844 G->C | 1 (0.3) | - |
| IVSI-2 T->A | 1 (0.3) | - |
| cd 44 - C | - | 1 (0.4) |
| cd 8 - AA | 1 (0.3) | 1 (0.4) |
| Total | 298 (100) | 254 (100) |