PK mutations found in the present series
| Patient designation . | Ethnic origin . | Pyruvate kinase IU/gHb Vmax . | Genotype . |
|---|---|---|---|
| 1 | US White | 2.3 | 1529A/370C |
| 2 | US White | 4.3 | 1493G/? |
| 3 | US White | 7.0 | 1529A/401A |
| 4 | US White | 5.6 | 1529A/1529A |
| 5 | US White | 3.4 | 1654A/721T |
| 6 | US White | 7.4 | 1456T/307Cdel |
| 7 | US White | 4.8 | 1456T/1153T* |
| 8 | US White | 1.6 | 1529A/1529A |
| 9 | US White | 2.4 | 1529A/1484T |
| 10 | US White | 6.7 | 1529A/1276T |
| 11 | US White | 1.6 | 1529A/1529A |
| 12 | US White | 3.8 | 1529A/1529A |
| 13 | US White | 5.1 | 1529A/476T |
| 14 | US White | 4.6 | 1436A/1151T |
| 15 | US White | 4.1 | 1574Gins/721T |
| 16 | US White | 4.7 | 1484T/1378A |
| 17 | Portuguese | Hydrops | 993A/1022A |
| 18 | Brazilian | 9.9 | 1151T/1151T |
| 19 | Arabic | 5.3 | 1456T/1168A |
| 20 | Asian | 2.7 | 1456T/943A |
| Patient designation . | Ethnic origin . | Pyruvate kinase IU/gHb Vmax . | Genotype . |
|---|---|---|---|
| 1 | US White | 2.3 | 1529A/370C |
| 2 | US White | 4.3 | 1493G/? |
| 3 | US White | 7.0 | 1529A/401A |
| 4 | US White | 5.6 | 1529A/1529A |
| 5 | US White | 3.4 | 1654A/721T |
| 6 | US White | 7.4 | 1456T/307Cdel |
| 7 | US White | 4.8 | 1456T/1153T* |
| 8 | US White | 1.6 | 1529A/1529A |
| 9 | US White | 2.4 | 1529A/1484T |
| 10 | US White | 6.7 | 1529A/1276T |
| 11 | US White | 1.6 | 1529A/1529A |
| 12 | US White | 3.8 | 1529A/1529A |
| 13 | US White | 5.1 | 1529A/476T |
| 14 | US White | 4.6 | 1436A/1151T |
| 15 | US White | 4.1 | 1574Gins/721T |
| 16 | US White | 4.7 | 1484T/1378A |
| 17 | Portuguese | Hydrops | 993A/1022A |
| 18 | Brazilian | 9.9 | 1151T/1151T |
| 19 | Arabic | 5.3 | 1456T/1168A |
| 20 | Asian | 2.7 | 1456T/943A |
Newly described mutation.