Table 1 Clinical manifestation of FA patients
| Â | Fa-001 | Fa-002 | Fa-003 | Fa-004 | Fa-005 |
|---|---|---|---|---|---|
Sex | Male | Male | Male | Female | Female |
Age at diagnosis (years) | 5 | 4 | 7 | 5 | 10 |
History (months) | 18 | 18 | 84 | 5 | 108 |
Café au lait spots | Yes | Yes | No | No | Yes |
Short stature | No | Yes | No | Yes | Yes |
Hand abnormalities | Absence of right hand thumb. Radial eversion of left hand thumb. | No | Right hand thumb deformity. Hypoplastic thenar eminence of right hand. | Hexadactylism of right hand | Hexadactylism |
Facial features | Microcephaly small eyes | No | No | No | Microcephaly |
Gonads | No | Hypospadias | No | No | No |
Gastrointestinal tract abnormalities | No | No | No | No | Yes |
Hematology 1 WBC | 2.09 × 109/L | 4.27 × 109/L | 2.67 × 109/L | 6.86 × 109/L | 2.78 × 109/L |
HGB | 32Â g/L | 93Â g/L | 78Â g/L | 106Â g/L | 57Â g/L |
PLT | 9 × 109/L | 30 × 109/L | 14 × 109/L | 33 × 109/L | 42 × 109/L |
MMC (80Â ng/ml)* | 32 | 33 | 34 | 34 | 40 |
Abnormal cell rate (%) | |||||
Single-cell gel electrophoresis test** | 69 | 62 | 59 | 57 | 92 |
Comet cell rates (%) | |||||
Treatment | Androstanazol Prednisone | Androstanazol Prednisone | Androstanazol Prednisone | Traditional Chinese medicine | Androstanazol Prednisone |
Blood transfusion | 4 U RBC/year | 6 U RBC/year | No | No | No |
2 dose PLT/year | 2 dose PLT/year | ||||
Hematology 2 WBC | 4.4 × 109/L | 3.55 × 109/L | 3.03 × 109/L | 4.7 × 109/L | 3.05 × 109/L |
HGB | 70Â g/L | 78Â g/L | 101Â g/L | 71Â g/L | 86Â g/L |
PLT | 16 × 109/L | 19 × 109/L | 105 × 109/L | 25 × 109/L | 75 × 109/L |