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Table 1 Clinical manifestation of FA patients

From: Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients

  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 32 g/L 93 g/L 78 g/L 106 g/L 57 g/L
PLT 9 × 109/L 30 × 109/L 14 × 109/L 33 × 109/L 42 × 109/L
MMC (80 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 70 g/L 78 g/L 101 g/L 71 g/L 86 g/L
PLT 16 × 109/L 19 × 109/L 105 × 109/L 25 × 109/L 75 × 109/L
  1. Hematology 1: The first time the patient was admitted to our hospital; Hematology 2: The day after treatment for 24 months ended.
  2. * MMC tests: at an 80 ng/ml concentration of MMC, the percentage of cells with abnormal chromosomes (including chromosome breakage) in the controls was 15% (abnormality cell). The results showed that all of the patients had a greater percentage of abnormality cells than the controls.
  3. ** Single-cell gel electrophoresis tests, the comet cell rates of the controls was <10%. The results showed that all of the patients had significantly higher comet cell rates than the normal controls.