Characteristics of patients with VHL homozygous mutation (adjusted to age)
| VHL mutation . | Age, y . | Sex . | Hct, % . | MCV, (fL) . | EPO, (mIU/mL) . | In vitro assay . |
|---|---|---|---|---|---|---|
| VHLP138L | 15 | Female | 59.2 | 88.1 | 40 | Hypersensitive |
| VHLH191D | 5 | Female | 53.1 | 63.1 | 201.6 | Normal27 |
| VHLR200W | 16 | Male | 53.4 | 81.2 | 31 | Hypersensitive27 |
| VHL mutation . | Age, y . | Sex . | Hct, % . | MCV, (fL) . | EPO, (mIU/mL) . | In vitro assay . |
|---|---|---|---|---|---|---|
| VHLP138L | 15 | Female | 59.2 | 88.1 | 40 | Hypersensitive |
| VHLH191D | 5 | Female | 53.1 | 63.1 | 201.6 | Normal27 |
| VHLR200W | 16 | Male | 53.4 | 81.2 | 31 | Hypersensitive27 |