Table 1.
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) |