HFE Genotype of XLSA Probands
| Family No. . | Reference . | ALAS2 Mutation . | ALAS2 Allele . | No. of Probands . | C282Y Genotype . | H63D Genotype . |
|---|---|---|---|---|---|---|
| 1 | 3 | I476N | Hemi | 1 | −/− | −/− |
| 2 | 4 | F165L | Hemi | 1 | −/− | −/− |
| 3 | 6 | K299Q | Hemi | 1 | −/− | +/− |
| 4 | 6 | A172T | Het | 1 | −/− | −/− |
| 5 | 3-150 | Y199H | Hemi | 1 | +/+ | −/− |
| 6 | 3-150 | R411C | Hemi | 1 | −/− | +/− |
| 7 | 3-150 | R448Q | Hemi | 1 | −/− | −/− |
| 8 | 3-150 | R452C | Hemi | 1 | −/− | −/− |
| — | 36 | — | Hemi | 1 | +/− | +/− |
| — | 3-151 | — | Hemi | 1 | +/− | +/− |
| — | 3-151 | — | Hemi | 1 | +/− | −/− |
| — | 3-151 | — | Hemi | 3 | −/− | +/− |
| — | 3-151 | — | Hemi | 6 | −/− | −/− |
| — | 3-151 | — | Het | 1 | −/− | +/− |
| — | 3-151 | — | Het | 2 | −/− | −/− |
| Family No. . | Reference . | ALAS2 Mutation . | ALAS2 Allele . | No. of Probands . | C282Y Genotype . | H63D Genotype . |
|---|---|---|---|---|---|---|
| 1 | 3 | I476N | Hemi | 1 | −/− | −/− |
| 2 | 4 | F165L | Hemi | 1 | −/− | −/− |
| 3 | 6 | K299Q | Hemi | 1 | −/− | +/− |
| 4 | 6 | A172T | Het | 1 | −/− | −/− |
| 5 | 3-150 | Y199H | Hemi | 1 | +/+ | −/− |
| 6 | 3-150 | R411C | Hemi | 1 | −/− | +/− |
| 7 | 3-150 | R448Q | Hemi | 1 | −/− | −/− |
| 8 | 3-150 | R452C | Hemi | 1 | −/− | −/− |
| — | 36 | — | Hemi | 1 | +/− | +/− |
| — | 3-151 | — | Hemi | 1 | +/− | +/− |
| — | 3-151 | — | Hemi | 1 | +/− | −/− |
| — | 3-151 | — | Hemi | 3 | −/− | +/− |
| — | 3-151 | — | Hemi | 6 | −/− | −/− |
| — | 3-151 | — | Het | 1 | −/− | +/− |
| — | 3-151 | — | Het | 2 | −/− | −/− |