Table 1.

Clinical characteristics of 39 patients with aplastic anemia, stratified by the presence or absence of mutations. Where indicated, fewer than 39 patients were evaluable.

Characteristic	Total cohort (n = 39)	No mutation (n = 30)	Mutation present (n = 9)	P value
Sex - n (%)
Male	22 (56)	18 (60)	4 (44)	0.46
Female	17 (44)	12 (40)	5 (56)
Age at diagnosis, yr
Median (range)	34.8 (4 - 65.7)	34.5 (4 – 65.7)	44.9 (6 – 58)	0.85
Age at sequencing, yr
Median (range)	37.4 (17.4 – 66.3)	35.2 (20.8 - 66.3)	44.9 (17.7 – 58.7)	0.53
Years with AA at sequencing, yr
Median (range)	0.5 (0 - 24.8)	0.46 (0 - 24.8)	0.67 (0 – 19.3)	0.21
White blood cell count, 109/L
Median (range)	2.0 (0.3 – 5.8)	2.1 (0.3 – 5.8)	1.6 (0.6 – 3.6)	0.55
Absolute neutrophil count, /mm3
Median (range)	474 (0 – 2560)	665 (0 – 2560)	470 (0 – 1760)	0.46
Platelets, 109/L
Median (range)	16 (4 – 151)	15 (4 – 151)	17 (5 – 51)	0.56
Hemoglobin, g/dL
Median (range)	8.9 (3.9 – 12.7)	8.8 (3.9 – 12.7)	9.4 (6.8 – 11.8)	0.52
Corrected reticulocyte count, %
Median (range)	0.57 (0.04 – 0.97)	0.59 (0.04 – 0.97)	0.38 (0.12 – 0.62)	0.28
Marrow cellularity - n (%) (n=38 evaluable)
<10%	16 (41)	13 (43)	3 (33)	0.72
10 - 20%	19 (49)	15 (50)	4 (44)
21 - 30%	2 (5)	1 (3)	1 (11)
>30%	1 (3)	1 (3)	-
AA severity - n (%) (n=35 evaluable)
Moderate	6 (15)	5 (17)	1 (11)	0.89
Severe	20 (51)	17 (57)	3 (33)
Very severe	9 (23)	7 (23)	2 (22)
PNH clone - n (%) (n=31 evaluable)
Absent	27 (69)	22 (73)	5 (56)	0.21
Present	4 (10)	2 (7)	2 (22)
Pre-existing hematologic disorder - n (%)
Absent	33 (85)	25 (83)	8 (89)	1.00
Present	6 (15)	5 (17)	1 (11)
Dyskeratosis congenita	3	3	-
Fanconi anemia	1	1	-
Pure red cell aplasia	1	1	-
Schwachman-Diamond Syndrome	1	-	1
IST prior to sequencing - n (%)
Yes	19 (49)	12 (40)	7 (78)	0.06
No	20 (51)	18 (60)	2 (22)

Abbreviations: PNH, Paroxysmal nocturnal hemoglobinuria; IST. Immunosuppressive therapy.