Table 3.
Frequency of β-thalassaemia mutations identified in Malay patients using Multiplex-ARMS.
| Mutations | Percentage % (n) | Total |
|---|---|---|
| Heterozygous mutation | ||
| β/βCd 26 (G-A) | 55.6 (5) | |
| β/βIVS 1-1 (G-T) | 22.2 (2) | |
| β/βCd 41/42 (−TTCT) | 22.2 (2) | 9 |
| Compound heterozygous | ||
| βCd 26 (G-A)/β IVS 1-5 (G-C) | 32.1 (9) | |
| βCd 26 (G-A)/βIVS 1-1 (G-T) | 17.8 (5) | |
| βCd 26 (G-A)/βCd 41/42 (−TTCT) | 14.3 (4) | |
| βCd 26 (G-A)/βCd 17 (A-T) | 7.1 (2) | |
| βCd 26 (G-A)/βCd 15 (G-A) | 7.1 (2) | |
| βCd 26 (G-A)/βCd 8/9 (+G) | 3.6 (1) | |
| βCd 41/42 (−TTCT)/βCd 19 (A-G) | 3.6 (1) | |
| βCd 41/42 (−TTCT)/β-28 (A-G) | 3.6 (1) | |
| βCd 41/42 (−TTCT)/βIVS 1-1 (G-T) | 3.6 (1) | |
| βIVS 1-5 (G-C)/βIVS 1-1 (G-T) | 3.6 (1) | |
| βIVS 1-5 (G-C)/βCd 19 (A-G) | 3.6 (1) | 28 |
| Uncharacterised | 3 | |
| Total | 40 |