Main clinical and laboratory features of patients with ANKRD26-related thrombocytopenia
| Family/no. of patients . | ANKRD26 5′-UTR mutation . | Mean age, y (range) . | WHO bleeding score (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 | c.-113A → C | 26.6 (14-50) | 0, 1 (2) | 85 (23-176) | 11.43 (11-12.1) | 12.53 (11.9-13.2) | 3.9 (2.71-5.6) |
| 2*/2 | c.-116C → T | 21 (6-36) | 1, 2 | 42 (36-48) | 10.85 (10.5-11.2) | 14.95 (13.9-16) | 11.04 (6.08-16) |
| 3/2 | c.-118C → T | 30.5 (19-42) | 1, 1 | 40 (7-73) | 11.5 (11.4-11.6) | 13.7 (12.9-14.5) | 7.64 (6.12-9.16) |
| 4*/2 | c.-118C → T | 48.5 (32-65) | 0, 2 | 45 (44-46) | 9.9 (9.8-10) | 15.15 (15-15.3) | 7.43 (5.61-9.26) |
| 5/4 | c.-118C → A | 75 (58-84) | 1, 2 (2), 4 | 42 (15-79) | 8.89* (8.68-9.1) | 13.87 (12.3-16.2) | 9.87 (7.31-12.6) |
| 6/1 | c.-119C → A | 10 | 0 | 58 | 6.2 | 12.2 | 5.5 |
| 7/3 | c.-121A → C | 55.3 (41-77) | 0 (2), 3 | 63 (28-87) | 10.26 (10-10.8) | 15.63 (12.8-17) | 15.45 (11.6-21.33) |
| 8*/2 | c.-125T → G | 69.5 (59-80) | 0, 1 | 46.5 (43-50) | 6.75 (6.5-7) | 16.25 (16-16.5) | 10.5 (10-11) |
| 9/2 | c.-125T → G | 44.5 (37-52) | 2, 4 | 8.5 (7-10) | 9.2 (7.6-10.8) | 14.65 (12-17.3) | 10.4 (7-13.8) |
| 10/3 | c.-126T → G | 42 (27-69) | 2 (3) | 44.33 (21-80) | 10.6 (10.4-10.9) | 15.36 (13.9-16.5) | 9.41 (8.55-12.19) |
| 11*/7 | c.-127A → T | 28.8 (12-65) | 0 (6), 3 | 37.4 (10-56) | 11.16 (9.3-14.3) | 13.41 (10.5-15.8) | 8.76 (7.45-9.9) |
| 12/3 | c.-127A → T | 23 (9-40) | 0 (3) | 67.66 (46-94) | NA | ND | 8.27 (6.89-9.32) |
| 13*/2 | c.-127A → T | 35.5 (21-50) | 0, 3 | 31 (23-39) | 7.4 (7.3-7.5) | 14.5 (13.7-15.3) | 8.45 (8.4-8.5) |
| 14/2 | c.-127A → G | 31.5 (19-44) | 1, 1 | 94 (46-142) | 7.04 (6.48-7.6) | 16.1 (13.9-18.3) | 9.81 (7.93-11.7) |
| 15*/7 | c.-128G → A | 51.7 (25-83) | 0 (3), 2 (4) | 30 (14-41) | 10.6 (9.8-11.6) | 15.35 (12.5-18.4) | 9.03 (6.48-10.65) |
| 16/2 | c.-128G → A | 14.5 (1-28) | 0, 1 | 28.5 (7-50) | 9.35 (9.3-9.4) | 14.95 (13.6-16.3) | 11.1 (10.06-12.57) |
| 17/2 | c.-128G → A | 35.5 (23-48) | 0, 3 | 52 (35-69) | 8.05 (7.8-8.3) | 13.25 (13.1-13.4) | 6.91 (6.43-7.4) |
| 18*/3 | c.-128G → A | 25.3 (10-33) | 2 (2), 3 | 33.66 (16-53) | NG | 11.83 (10.2-13.6) | 7.62 (6.77-8.32) |
| 19/2 | c.-134G → A | 52 (38-66) | 0 (2) | 50.5 (44-57) | 8.6 (8.4-8.8) | 14.4 (13.3-15.5) | 9.22 (7.4-11.05) |
| 20*/22 | c.-134G → A | 41.2 (13-69) | 0 (11), 1 (7), 2 (3), 4 | 53.59 (24-106) | 8.53 (7.1-11) | 15.18 (10.5-17.8) | 9.34 (6.03-16.4) |
| 21*/2 | c.-134G → A | 26.5 (16-37) | 0 (2) | 38.5 (30-47) | 8.9 (8.8-9) | 12.5 (12-13) | 10.9 (10.7-11.1) |
| Family/no. of patients . | ANKRD26 5′-UTR mutation . | Mean age, y (range) . | WHO bleeding score (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 | c.-113A → C | 26.6 (14-50) | 0, 1 (2) | 85 (23-176) | 11.43 (11-12.1) | 12.53 (11.9-13.2) | 3.9 (2.71-5.6) |
| 2*/2 | c.-116C → T | 21 (6-36) | 1, 2 | 42 (36-48) | 10.85 (10.5-11.2) | 14.95 (13.9-16) | 11.04 (6.08-16) |
| 3/2 | c.-118C → T | 30.5 (19-42) | 1, 1 | 40 (7-73) | 11.5 (11.4-11.6) | 13.7 (12.9-14.5) | 7.64 (6.12-9.16) |
| 4*/2 | c.-118C → T | 48.5 (32-65) | 0, 2 | 45 (44-46) | 9.9 (9.8-10) | 15.15 (15-15.3) | 7.43 (5.61-9.26) |
| 5/4 | c.-118C → A | 75 (58-84) | 1, 2 (2), 4 | 42 (15-79) | 8.89* (8.68-9.1) | 13.87 (12.3-16.2) | 9.87 (7.31-12.6) |
| 6/1 | c.-119C → A | 10 | 0 | 58 | 6.2 | 12.2 | 5.5 |
| 7/3 | c.-121A → C | 55.3 (41-77) | 0 (2), 3 | 63 (28-87) | 10.26 (10-10.8) | 15.63 (12.8-17) | 15.45 (11.6-21.33) |
| 8*/2 | c.-125T → G | 69.5 (59-80) | 0, 1 | 46.5 (43-50) | 6.75 (6.5-7) | 16.25 (16-16.5) | 10.5 (10-11) |
| 9/2 | c.-125T → G | 44.5 (37-52) | 2, 4 | 8.5 (7-10) | 9.2 (7.6-10.8) | 14.65 (12-17.3) | 10.4 (7-13.8) |
| 10/3 | c.-126T → G | 42 (27-69) | 2 (3) | 44.33 (21-80) | 10.6 (10.4-10.9) | 15.36 (13.9-16.5) | 9.41 (8.55-12.19) |
| 11*/7 | c.-127A → T | 28.8 (12-65) | 0 (6), 3 | 37.4 (10-56) | 11.16 (9.3-14.3) | 13.41 (10.5-15.8) | 8.76 (7.45-9.9) |
| 12/3 | c.-127A → T | 23 (9-40) | 0 (3) | 67.66 (46-94) | NA | ND | 8.27 (6.89-9.32) |
| 13*/2 | c.-127A → T | 35.5 (21-50) | 0, 3 | 31 (23-39) | 7.4 (7.3-7.5) | 14.5 (13.7-15.3) | 8.45 (8.4-8.5) |
| 14/2 | c.-127A → G | 31.5 (19-44) | 1, 1 | 94 (46-142) | 7.04 (6.48-7.6) | 16.1 (13.9-18.3) | 9.81 (7.93-11.7) |
| 15*/7 | c.-128G → A | 51.7 (25-83) | 0 (3), 2 (4) | 30 (14-41) | 10.6 (9.8-11.6) | 15.35 (12.5-18.4) | 9.03 (6.48-10.65) |
| 16/2 | c.-128G → A | 14.5 (1-28) | 0, 1 | 28.5 (7-50) | 9.35 (9.3-9.4) | 14.95 (13.6-16.3) | 11.1 (10.06-12.57) |
| 17/2 | c.-128G → A | 35.5 (23-48) | 0, 3 | 52 (35-69) | 8.05 (7.8-8.3) | 13.25 (13.1-13.4) | 6.91 (6.43-7.4) |
| 18*/3 | c.-128G → A | 25.3 (10-33) | 2 (2), 3 | 33.66 (16-53) | NG | 11.83 (10.2-13.6) | 7.62 (6.77-8.32) |
| 19/2 | c.-134G → A | 52 (38-66) | 0 (2) | 50.5 (44-57) | 8.6 (8.4-8.8) | 14.4 (13.3-15.5) | 9.22 (7.4-11.05) |
| 20*/22 | c.-134G → A | 41.2 (13-69) | 0 (11), 1 (7), 2 (3), 4 | 53.59 (24-106) | 8.53 (7.1-11) | 15.18 (10.5-17.8) | 9.34 (6.03-16.4) |
| 21*/2 | c.-134G → A | 26.5 (16-37) | 0 (2) | 38.5 (30-47) | 8.9 (8.8-9) | 12.5 (12-13) | 10.9 (10.7-11.1) |
WHO indicates World Health Organization; NA, not applicable; ND, not done; and NG, data not given by the automatic cell counter.
Mutation in the family has been already reported.12