Table 4 NGS results of RBC membrane protein-encoding genes in patients with HS
RBC membrane-encoding gene | USA 1 [22] | USA 2 [23] | Netherlands [24] | Korea (this study) |
|---|---|---|---|---|
No. of patients with mutation (%) | 10/20a (50.0) | 16 /19b (84.2) | 52 /66 (78.9) | 50/59 (84.7) |
No. of total mutations | 13 | 21 | 73 | 57 |
No. of different variants | 11 | 15 | 53 | 54 |
 ANK1 | 1 | 3 | 14 | 19 |
 SPTA | 6 | 5 | 25 | 2 |
 SPTB | 4 | 4 | 8 | 28 |
 SCL4A1 | 0 | 3 | 4 | 3 |
 EBP41 | NA | 0 | 1 | 1 |
 EBP42 | NA | 0 | 1 | 1 |