Clinical features in the 57 FA patients
| Feature . | N . |
|---|---|
| Age, y | |
| ≤ 18 (range, 4-18) | 29 |
| > 18 (range, 19-56) | 28 |
| Sex | |
| Female | 31 |
| Male | 26 |
| Consanguinity* | |
| Yes | 15 |
| No | 38 |
| Unknown | 4 |
| Constitutional FANC genes mutations | |
| FANCA | 48 |
| FANCG | 1 |
| FANCF | 1 |
| FANCD2 | 1 |
| FANCD1/BRCA2 | 1 |
| FANCJ/BACH1/BRIP1 | 1 |
| Unknown | 4 |
| BM morphology | |
| Normal† | 8 |
| MH/AA† | 20 |
| MH | 12 |
| AA | 8 |
| Myelodysplasia | 18 |
| RT | 1 |
| RARS | 1 |
| RCUD | 2 |
| RCMD | 8 |
| RAEB-1 | 4 |
| RAEB-2 | 1 |
| MDS-U | 1 |
| AML | 11 |
| Karyotype‡ | |
| Abnormal | 29 |
| Normal | 24 |
| Mitosis failure | 4 |
| Feature . | N . |
|---|---|
| Age, y | |
| ≤ 18 (range, 4-18) | 29 |
| > 18 (range, 19-56) | 28 |
| Sex | |
| Female | 31 |
| Male | 26 |
| Consanguinity* | |
| Yes | 15 |
| No | 38 |
| Unknown | 4 |
| Constitutional FANC genes mutations | |
| FANCA | 48 |
| FANCG | 1 |
| FANCF | 1 |
| FANCD2 | 1 |
| FANCD1/BRCA2 | 1 |
| FANCJ/BACH1/BRIP1 | 1 |
| Unknown | 4 |
| BM morphology | |
| Normal† | 8 |
| MH/AA† | 20 |
| MH | 12 |
| AA | 8 |
| Myelodysplasia | 18 |
| RT | 1 |
| RARS | 1 |
| RCUD | 2 |
| RCMD | 8 |
| RAEB-1 | 4 |
| RAEB-2 | 1 |
| MDS-U | 1 |
| AML | 11 |
| Karyotype‡ | |
| Abnormal | 29 |
| Normal | 24 |
| Mitosis failure | 4 |
RT indicates refractory thrombocytopenia; RARS, refractory anemia with ringed sideroblasts; RCUD, refractory cytopenia with unilineage dysplasia; RCMD, refractory cytopenia with multilineage dysplasia; RAEB, refractory anemia with excess of blast; RAEB-1, 5%–9% blasts; RAEB-2, 10%–19% blasts; and MDS-U, MDS-unclassifiable, according to the World Health Organization classification 2008.
Consanguinity was defined according to the familial history and/or homozygous FANC gene mutation or deletion (when known); frequent homozygosity regions were found in the fibroblasts of these patients when tested by SNP-array (n = 11).
A moderate dyserythropoiesis is usual in bone marrow of FA patients and was not considered as a criteria for MDS.
At inclusion in the study.