Residual Enzyme Activity and Clinical Manifestations of PK-Deficient Patients
| Subject . | Genotype . | PK Vmax (IU/g Hb) . | Clinical Data . |
|---|---|---|---|
| 1 | 476T/1529A (G159V/R510Q) | 5.15 | Hemolytic anemia |
| 2 | 884T/+ (A295V) | 10.32 | Heterozygote |
| 3 | 943A/1456T (E315K/R486W) | 2.71 | Hemolytic anemia, neonatal jaundice |
| 4 | 1022A/993A (G341D/D331Q) | 8.9 | Hydrops Fatalis |
| 5 | 1022A/? (G341D) Older Younger | 2.3 3.5 | Severe hemolylic anemia, neonatal jaundice (older sister) |
| 6-151 | 1511T/1511T (R504L) | 9.96 | Severe hemolytic anemia |
| 7 | 1528T/+ (R510Ter) | 6.05 | The mother of a child with severe hemolytic anemia |
| Normal values | 11.1-18.9 | ||
| Subject . | Genotype . | PK Vmax (IU/g Hb) . | Clinical Data . |
|---|---|---|---|
| 1 | 476T/1529A (G159V/R510Q) | 5.15 | Hemolytic anemia |
| 2 | 884T/+ (A295V) | 10.32 | Heterozygote |
| 3 | 943A/1456T (E315K/R486W) | 2.71 | Hemolytic anemia, neonatal jaundice |
| 4 | 1022A/993A (G341D/D331Q) | 8.9 | Hydrops Fatalis |
| 5 | 1022A/? (G341D) Older Younger | 2.3 3.5 | Severe hemolylic anemia, neonatal jaundice (older sister) |
| 6-151 | 1511T/1511T (R504L) | 9.96 | Severe hemolytic anemia |
| 7 | 1528T/+ (R510Ter) | 6.05 | The mother of a child with severe hemolytic anemia |
| Normal values | 11.1-18.9 | ||
Abbreviation: IU, International units.
Transfused monthly.