Non-DC subjects
| Diagnosis . | FA patients . | Non-FA, non-DC . | All non-DC . | ||||||
|---|---|---|---|---|---|---|---|---|---|
| FA . | BMT . | Mosaic . | FA Total . | DBA . | SDS . | Other . | Non-DC patients . | Non-DC relatives . | |
| Number | 13 | 1 | 3 | 17 | 14 | 5 | 10 | 46 | 35 |
| Age, y | |||||||||
| Median | 18 | 15 | 27 | 18 | 13.5 | 12 | 5.5 | 15 | 31 |
| Range | 5-42 | — | 27-33 | 5-42 | 3-43 | 8-42 | 1-21 | 1-43 | 5-72 |
| Less than 18 y, no. (%) | 6 | 1 | 0 | 7 (41) | 8 (57) | 4 (80) | 8 (80) | 27 (59) | 13 (37)‡ |
| Mutations | |||||||||
| FANCA | 8 | 1 | 3 | 12 | RPS19 4 | SBDS 4 | 0 | 20 | — |
| FANCC | 2 | 0 | 0 | 2 | — | — | — | — | — |
| FANCF | 1 | 0 | 0 | 1 | — | — | — | — | — |
| Unknown | 2 | 0 | 0 | 2 | 10 | 1 | 10 | 23 | — |
| BMF | |||||||||
| None | 3 | 1* | 3 | 7 | 1 | 0 | 2† | 7 | 35 |
| Moderate | 4 | 0 | 0 | 4 | 2 | 5 | 6 | 30 | 0 |
| Severe | 6 | 0 | 0 | 6 | 11 | 0 | 2 | 8 | 0 |
| Diagnosis . | FA patients . | Non-FA, non-DC . | All non-DC . | ||||||
|---|---|---|---|---|---|---|---|---|---|
| FA . | BMT . | Mosaic . | FA Total . | DBA . | SDS . | Other . | Non-DC patients . | Non-DC relatives . | |
| Number | 13 | 1 | 3 | 17 | 14 | 5 | 10 | 46 | 35 |
| Age, y | |||||||||
| Median | 18 | 15 | 27 | 18 | 13.5 | 12 | 5.5 | 15 | 31 |
| Range | 5-42 | — | 27-33 | 5-42 | 3-43 | 8-42 | 1-21 | 1-43 | 5-72 |
| Less than 18 y, no. (%) | 6 | 1 | 0 | 7 (41) | 8 (57) | 4 (80) | 8 (80) | 27 (59) | 13 (37)‡ |
| Mutations | |||||||||
| FANCA | 8 | 1 | 3 | 12 | RPS19 4 | SBDS 4 | 0 | 20 | — |
| FANCC | 2 | 0 | 0 | 2 | — | — | — | — | — |
| FANCF | 1 | 0 | 0 | 1 | — | — | — | — | — |
| Unknown | 2 | 0 | 0 | 2 | 10 | 1 | 10 | 23 | — |
| BMF | |||||||||
| None | 3 | 1* | 3 | 7 | 1 | 0 | 2† | 7 | 35 |
| Moderate | 4 | 0 | 0 | 4 | 2 | 5 | 6 | 30 | 0 |
| Severe | 6 | 0 | 0 | 6 | 11 | 0 | 2 | 8 | 0 |
FA indicates Fanconi anemia; BMT, bone marrow transplant; —, not applicable.
History of severe BMF pre-BMT. Not included in subsequent statistical analyses, but data included in figures. Severity defined in “Patients, materials, and methods.”
Two patients with physical findings (one sibling of a subject with thrombocytopenia absent radii, one with skin poikiloderma and macrocytic red cells) and normal blood counts.
‡The trend was for a larger proportion of non-DC subjects less than 18 years old compared with non-DC relatives (P = .07, Fisher exact).