Table 1 Main clinical and laboratory... | American Society of Hematology

Table 1

Main clinical and laboratory features of patients with ANKRD26-RT grouped by family

Family/No. of patients/Country	ANKRD26 5′ UTR mutation	Mean age, y (range)	WHO bleeding score³ (no. of patients)	Mean platelet count, ×10⁹/L (range)	Mean MPV, fL (range)	Mean hemoglobin, g/dL (range)	Mean WBC, ×10⁹/L (range)
1/3/Canada	c.-116C>G*	18 (6-37)	1 (2), 2 (1)	70.6 (45-107)	9.55 (9.4-9.7)†	12.85 (12.1-13.6)†	11.7 (10.6-12.8)†
2/2/France	c.-118C>A	34 (17-51)	2 (2)	63.5 (45-82)	10.2 (9.9-10.5)	15.5 (14.8-16.3)	7.25 (6.8-7.7)
3/1/US	c.-118C>T	57	0 (1)	38	7.7	14.3	10.5
4/3/France	c.-119C>A	32.6 (2-65)	2 (2), 3	55.6 (36-81)	10.1 (9-11.3)	13.7 (12.8-14.2)	7.5 (4.7-9.6)
5/1/Italy	c.-126T>G	28	1 (1)	14	8.1	16.6	7.3
6/9/Argentina	c.-127A>G	37.7 (6-74)	0 (2), 1 (4), 2 (3)	96.2 (68-147)	8.6 (7.7-9.5)‡	15.3 (12.9-17.7)	8.47 (6.1-11.1)
7/2/Italy	c.-127A>G	32 (17-47)	0 (1), 2 (1)	79.5 (68-91)	8.8 (8.6-9)	14.15 (12.4-15.9)	8.59 (7.92-9.26)
8/3/France	c.-127A>T	19 (6-38)	0 (1), 1 (2)	65.6 (47-85)	7.5 (7.1-7.8)	14.8 (12.8-17.2)	7 (5.3-8.7)
9/8/France	c.-127A>T	39.25 (1-68)	0 (5), 1 (3)	39.37 (24-84)	10.8 (9.3-11.7)	14.15 (11-16.8)	9.55 (6.7-12.1)
10/6/France	c.-127delAT*	34.6 (1-66)	0 (6)	54.6 (26-96)	10.2 (8.7-11)	14.2 (10.4-16.6)	7.86 (5.8-13.4)
11/3/France	c.-128G>A	63 (21-97)	2 (2)	19 (12-30)	8.1 (7.7-8.5)†	13.6 (13.6-13.6)†	7.75 (7.54-7.96)†
12/2/France	c.-128G>A	36.5 (26-47)	1, 2	71.5 (68-75)	8.4§	14.8§	10§
13/3/Italy	c.-128G>A	20 (12-26)	0 (3)	34 (14-70)	7.6 (6.3-8.5)	15.3 (14-16.5)	14.6 (9.21-21)
14/1/Japan	c.-128G>A	25	0 (1)	54	8.9	15.8	12.5
15/2/Italy	c.-128G>A	52 (50-54)	1 (2)	20 (19-21)	8.4§	14.2§	5.1§
16/10/US	c.-128G>A	23.2 (1-62)	0 (4), 1 (6)	35.5 (19-65)	8.7 (7.5-10.2)	14.43 (12.7-16.1)	9.93 (7-12.4)
17/8/Italy	c.-128G>A	40.2 (6-93)	0 (1), 1 (1), 2 (3), 3 (19), 4 (1)	18.7 (5-34)	8.5 (7-10.3)\|\|	13.47 (11.8-16.3)	7.64 (5.73-11.31)
18/1/Italy	c.-128G>A	38	2 (1)	48	9.04	15.9	8.51
19/2/France	c.-128G>C*	20 (1-39)	0 (2)	52.5 (24-81)	12 (10-14)	13.15 (12.3-4)	9.35 (6.6-12.1)
20/1/Japan	c.-134G>A	13	0 (1)	81	9.2	14.2	7.64
21/2/US	c.-134G>A	58.5 (50-67)	2 (2)	10 (7-13)	8.2 (5.7-10.7)	11.7 (10.7-12.7)	7.85 (5-10-75)
22/1/The Netherlands	c.-134G>A	34	2 (1)	24	11.1	15.5	12.5
23/1/US	c.-134G>A	64	1 (1)	20	8.8	13.4	8.2

Family/No. of patients/Country	ANKRD26 5′ UTR mutation	Mean age, y (range)	WHO bleeding score³ (no. of patients)	Mean platelet count, ×10⁹/L (range)	Mean MPV, fL (range)	Mean hemoglobin, g/dL (range)	Mean WBC, ×10⁹/L (range)
1/3/Canada	c.-116C>G*	18 (6-37)	1 (2), 2 (1)	70.6 (45-107)	9.55 (9.4-9.7)†	12.85 (12.1-13.6)†	11.7 (10.6-12.8)†
2/2/France	c.-118C>A	34 (17-51)	2 (2)	63.5 (45-82)	10.2 (9.9-10.5)	15.5 (14.8-16.3)	7.25 (6.8-7.7)
3/1/US	c.-118C>T	57	0 (1)	38	7.7	14.3	10.5
4/3/France	c.-119C>A	32.6 (2-65)	2 (2), 3	55.6 (36-81)	10.1 (9-11.3)	13.7 (12.8-14.2)	7.5 (4.7-9.6)
5/1/Italy	c.-126T>G	28	1 (1)	14	8.1	16.6	7.3
6/9/Argentina	c.-127A>G	37.7 (6-74)	0 (2), 1 (4), 2 (3)	96.2 (68-147)	8.6 (7.7-9.5)‡	15.3 (12.9-17.7)	8.47 (6.1-11.1)
7/2/Italy	c.-127A>G	32 (17-47)	0 (1), 2 (1)	79.5 (68-91)	8.8 (8.6-9)	14.15 (12.4-15.9)	8.59 (7.92-9.26)
8/3/France	c.-127A>T	19 (6-38)	0 (1), 1 (2)	65.6 (47-85)	7.5 (7.1-7.8)	14.8 (12.8-17.2)	7 (5.3-8.7)
9/8/France	c.-127A>T	39.25 (1-68)	0 (5), 1 (3)	39.37 (24-84)	10.8 (9.3-11.7)	14.15 (11-16.8)	9.55 (6.7-12.1)
10/6/France	c.-127delAT*	34.6 (1-66)	0 (6)	54.6 (26-96)	10.2 (8.7-11)	14.2 (10.4-16.6)	7.86 (5.8-13.4)
11/3/France	c.-128G>A	63 (21-97)	2 (2)	19 (12-30)	8.1 (7.7-8.5)†	13.6 (13.6-13.6)†	7.75 (7.54-7.96)†
12/2/France	c.-128G>A	36.5 (26-47)	1, 2	71.5 (68-75)	8.4§	14.8§	10§
13/3/Italy	c.-128G>A	20 (12-26)	0 (3)	34 (14-70)	7.6 (6.3-8.5)	15.3 (14-16.5)	14.6 (9.21-21)
14/1/Japan	c.-128G>A	25	0 (1)	54	8.9	15.8	12.5
15/2/Italy	c.-128G>A	52 (50-54)	1 (2)	20 (19-21)	8.4§	14.2§	5.1§
16/10/US	c.-128G>A	23.2 (1-62)	0 (4), 1 (6)	35.5 (19-65)	8.7 (7.5-10.2)	14.43 (12.7-16.1)	9.93 (7-12.4)
17/8/Italy	c.-128G>A	40.2 (6-93)	0 (1), 1 (1), 2 (3), 3 (19), 4 (1)	18.7 (5-34)	8.5 (7-10.3)\|\|	13.47 (11.8-16.3)	7.64 (5.73-11.31)
18/1/Italy	c.-128G>A	38	2 (1)	48	9.04	15.9	8.51
19/2/France	c.-128G>C*	20 (1-39)	0 (2)	52.5 (24-81)	12 (10-14)	13.15 (12.3-4)	9.35 (6.6-12.1)
20/1/Japan	c.-134G>A	13	0 (1)	81	9.2	14.2	7.64
21/2/US	c.-134G>A	58.5 (50-67)	2 (2)	10 (7-13)	8.2 (5.7-10.7)	11.7 (10.7-12.7)	7.85 (5-10-75)
22/1/The Netherlands	c.-134G>A	34	2 (1)	24	11.1	15.5	12.5
23/1/US	c.-134G>A	64	1 (1)	20	8.8	13.4	8.2

MPV, mean platelet volume; US, United States; WBC, white blood cell; WHO, World Health Organization.

New mutations.

†

Data from 2 of 3 patients.

‡

Data from 7 of 9 patients.

Data from 1 of 2 patients.

Data from 7 of 8 patients.

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