Table 3.
Genotypes | Phenotype | Case number | Constituent ratio (%) | Prevalence ratio (%) |
CD 41/42 (–TTCT)/N | β0/βN | 234 | 35.89 | 2.28 |
IVS-II-654 (C > T)/N | β+/βN | 218 | 33.44 | 2.12 |
CD 17 (A > T)/N | β0/βN | 67 | 10.28 | 0.65 |
–28 (A > G)/N | β+/βN | 63 | 9.66 | 0.61 |
CD 71/72 (+A)/N | β0/βN | 24 | 3.68 | 0.23 |
CD 27/28 (+C)/N | β0/βN | 14 | 2.15 | 0.14 |
βE(G > A)/N | β+/βN | 13 | 1.99 | 0.13 |
CD 14/15 (+G)/N | β0/βN | 5 | 0.77 | 0.05 |
–29 (A > G)/N | β+/βN | 4 | 0.61 | 0.04 |
CAP +1 (A > C)/N | β+/βN | 4 | 0.61 | 0.04 |
IVS-I-1 (G > T/A)/N | β0/βN | 3 | 0.46 | 0.03 |
CD43 (G > T)/N | β0/βN | 2 | 0.31 | 0.02 |
–80 (T > A)/N∗ | β+/βN | 1 | 0.15 | 0.01 |
Total | 652 | 100.00 | 6.34 |
A rare case with –80(T > A) homozygous mutation of β-thalassemia by Sanger sequencing.