Novel classification of HC
| Novel classification . | Molecular pattern . |
|---|---|
| HFE-related | p.Cys282Tyr homozygosity or compound heterozygosity of p.Cys282Tyr with other rare HFE pathogenic variants or HFE deletion |
| Non-HFE–related | Rare pathogenic variants in “non-HFE” genes:
|
| Digenic | Double heterozygosity and/or double homozygosity/heterozygosity for mutations in 2 different genes involved in iron metabolism (HFE and/or non-HFE) |
| Molecularly undefined | Molecular characterization (still) not available after sequencing of known genes (provisional diagnosis) |
| Novel classification . | Molecular pattern . |
|---|---|
| HFE-related | p.Cys282Tyr homozygosity or compound heterozygosity of p.Cys282Tyr with other rare HFE pathogenic variants or HFE deletion |
| Non-HFE–related | Rare pathogenic variants in “non-HFE” genes:
|
| Digenic | Double heterozygosity and/or double homozygosity/heterozygosity for mutations in 2 different genes involved in iron metabolism (HFE and/or non-HFE) |
| Molecularly undefined | Molecular characterization (still) not available after sequencing of known genes (provisional diagnosis) |
The table has been adapted from Table 4 in the article by Girelli et al that begins on page 3018.