Genotypes and biochemical iron parameters from 4 patients with HFE and HAMP mutations
Patients . | HFE mutation . | . | . | HAMP mutation . | Biochemical parameters . | . | |||
|---|---|---|---|---|---|---|---|---|---|
| Age-D, y . | pC282Y . | pH63D . | pS65C . | . | SF, μg/L . | TS, % . | |||
| 44 | −/− | −/− | +/− | pR59G | 716 | 75 | |||
| 50 | −/− | −/− | +/− | pR59G | 1052 | 61 | |||
| 43 | +/− | −/− | −/− | pR59G | 849 | 70 | |||
| 34 | −/− | +/− | −/− | pG71D | 275 | 85 | |||
Patients . | HFE mutation . | . | . | HAMP mutation . | Biochemical parameters . | . | |||
|---|---|---|---|---|---|---|---|---|---|
| Age-D, y . | pC282Y . | pH63D . | pS65C . | . | SF, μg/L . | TS, % . | |||
| 44 | −/− | −/− | +/− | pR59G | 716 | 75 | |||
| 50 | −/− | −/− | +/− | pR59G | 1052 | 61 | |||
| 43 | +/− | −/− | −/− | pR59G | 849 | 70 | |||
| 34 | −/− | +/− | −/− | pG71D | 275 | 85 | |||
All patients were male.
SF indicates serum ferritin; TS, transferrin saturation; and Age-D, age at diagnosis.