Table 3.
A comparison between the frequencies of various β-thalassemia mutations in thalassemia major and Intermedia
| Mutation | Thalassemia major (n 244) | Thalassemia intermedia (n 571) | P value |
|---|---|---|---|
| IVS-II-1 (G>A) | 73 (29.9) | 217 (38.0) | 0.027 |
| IVS-I-1 (G>A) | 45 (18.4) | 25 (4.4) | < 0.001 |
| Codon 8 (−AA) | 23 (9.4) | 35 (6.1) | 0.081 |
| Codon 39 (C>T) | 23 (9.4) | 7 (1.2) | < 0.001 |
| Codons 8/9 (+G) | 23 (9.4) | 19 (3.3) | < 0.001 |
| Codon 44 (−C) | 21 (8.6) | 4 (0.7) | < 0.001 |
| Codon 5 (−CT) | 16 (6.6) | 13 (2.3) | 0.002 |
| IVS-I-5 (G>C) | 6 (2.4) | 2 (0.3) | 0.203 |
| IVS-I-6 (T>C) | 6 (2.4) | 162 (28.4) | < 0.001 |
| IVS-I-110 (G>A) | 3 (1.2) | 22 (3.9) | 0.083 |
| IVS-I-128 (T>G) | - | 20 (3.5) | - |
| Codon 82/83 (−G) | - | 11( 1.9) | - |
| − 101 (C>T) | - | 6 (1.0) | - |
| Others | 15 (6.1) | 37 (6.5) | - |