Table 1.
Clinical characteristics of affected individuals
IndividualAge, yraSexPlatelet count, 103 cells/µl, min., max (135–400)Platelet volume, fl (9.0–12.0)Hematological symptomsHemoglobin, g/dL (11.0–15.5)Hematocrit, % (34.0–44.5)RBC count, 106 cells/µl (3.90–5.0)MCV, fl (82.0–98.0)RDW, % (11.9– 14.8)WBC count, 103 cells/µl (4.0–11.0)ANC, 103 cells/µl (1.87.5)ALC, 103 cells/µl (1.0–4.8)AMC, 103 cells/µl (0.1–0.9)
I-2 75 22, 22.5 (0.7), 23 11.0 (0.0) Bruising, Petechiae 12.7 (0.0) 39.6 (0.3) 4.4 (0.1) 90.8 (0.1) 14.6 (0.0) 9.8 (0.1) 5.3 3.0 0.7 
II-2 45 23, 25.5 (2.1), 28 9.5 (1.8) Bruising, Petechiae, Epistaxis, Menorrhagia 15.6 (0.5) 44.9 (1.8) 5.4 (0.1) 84.0 (1.3) 12.9 (0.1) 9.6 (1.6) 6.6 (2.0) 1.8 (0.3) 0.7 (0.1) 
II-3 43 23, 25.3 (2.1), 27 10.6 (0.2) Bruising, Petechiae, Epistaxis, Menorrhagia 13.3 (0.6) 42.7 (3.0) 4.9 (0.3) 86.4 (1.2) 12.5 (0.4) 12.5 (5.9) 10.6 (7.6) 1.8 (0.4) 0.8 (0.1) 
III-1 15 13, 24.1 (12.2), 54 10.2 (1.4) Bruising, Petechiae, Epistaxis, Menorrhagia 15.0 (0.8) 43.0 (2.6) 5.1 (0.4) 84.2 (2.3) 12.9 (0.6) 7.1 (1.2) 3.6 (0.7) 2.5 (0.6) 0.5 (0.1) 
III-3 51, 65.5 (26.4), 105 8.7 (1.8) Bruising, Petechiae, Epistaxis 14.5 (0.6) 37.5 (0.7) 5.0 (0.1) 74.5 (0.8) 13.0 (0.1) 17.6 (3.5) 7.0 (3.4) 8.4 (1.8) 0.8 (0.4) 
III-4 70, 87.8 (33.8), 148 10.3 (0.4) Bruising, Petechiae, Epistaxis 10.8 (0.8) 34.0 (2.5) 4.4 (0.4) 77.1 (1.0) 14.9 (0.6) 10.1 (6.6) 5.0 (2.9) 6.4 (3.6) 0.9 (0.2) 
III-5 70, 85.3 (24.0), 121 8.7 (1.7) Bruising, Epistaxis 12.1 (0.9) 35.7 (2.0) 4.7 (0.4) 76.4 (4.0) 13.3 (0.4) 13.3 (2.2) 7.3 (3.6) 3.7 (0.7) 1.2 (0.1) 
III-6 72, 75 (4.3), 78 9.9 (0.4) Bruising, Epistaxis 12.8 (0.1) 37.3 (0.4) 5.0 (0.1) 74.4 (0.1) 12.9 (0.1) 10.9 (0.2) 5.7 3.4 1.0 
III-7 73, 79 (8.5), 85 10.7 (0.6) Bruising 12.2 37.5 (0.1) 5.0 (0.1) 74.1 (0.3) 14.9 17.3 (0.2) 5.0 9.1 1.8 
IndividualAge, yraSexPlatelet count, 103 cells/µl, min., max (135–400)Platelet volume, fl (9.0–12.0)Hematological symptomsHemoglobin, g/dL (11.0–15.5)Hematocrit, % (34.0–44.5)RBC count, 106 cells/µl (3.90–5.0)MCV, fl (82.0–98.0)RDW, % (11.9– 14.8)WBC count, 103 cells/µl (4.0–11.0)ANC, 103 cells/µl (1.87.5)ALC, 103 cells/µl (1.0–4.8)AMC, 103 cells/µl (0.1–0.9)
I-2 75 22, 22.5 (0.7), 23 11.0 (0.0) Bruising, Petechiae 12.7 (0.0) 39.6 (0.3) 4.4 (0.1) 90.8 (0.1) 14.6 (0.0) 9.8 (0.1) 5.3 3.0 0.7 
II-2 45 23, 25.5 (2.1), 28 9.5 (1.8) Bruising, Petechiae, Epistaxis, Menorrhagia 15.6 (0.5) 44.9 (1.8) 5.4 (0.1) 84.0 (1.3) 12.9 (0.1) 9.6 (1.6) 6.6 (2.0) 1.8 (0.3) 0.7 (0.1) 
II-3 43 23, 25.3 (2.1), 27 10.6 (0.2) Bruising, Petechiae, Epistaxis, Menorrhagia 13.3 (0.6) 42.7 (3.0) 4.9 (0.3) 86.4 (1.2) 12.5 (0.4) 12.5 (5.9) 10.6 (7.6) 1.8 (0.4) 0.8 (0.1) 
III-1 15 13, 24.1 (12.2), 54 10.2 (1.4) Bruising, Petechiae, Epistaxis, Menorrhagia 15.0 (0.8) 43.0 (2.6) 5.1 (0.4) 84.2 (2.3) 12.9 (0.6) 7.1 (1.2) 3.6 (0.7) 2.5 (0.6) 0.5 (0.1) 
III-3 51, 65.5 (26.4), 105 8.7 (1.8) Bruising, Petechiae, Epistaxis 14.5 (0.6) 37.5 (0.7) 5.0 (0.1) 74.5 (0.8) 13.0 (0.1) 17.6 (3.5) 7.0 (3.4) 8.4 (1.8) 0.8 (0.4) 
III-4 70, 87.8 (33.8), 148 10.3 (0.4) Bruising, Petechiae, Epistaxis 10.8 (0.8) 34.0 (2.5) 4.4 (0.4) 77.1 (1.0) 14.9 (0.6) 10.1 (6.6) 5.0 (2.9) 6.4 (3.6) 0.9 (0.2) 
III-5 70, 85.3 (24.0), 121 8.7 (1.7) Bruising, Epistaxis 12.1 (0.9) 35.7 (2.0) 4.7 (0.4) 76.4 (4.0) 13.3 (0.4) 13.3 (2.2) 7.3 (3.6) 3.7 (0.7) 1.2 (0.1) 
III-6 72, 75 (4.3), 78 9.9 (0.4) Bruising, Epistaxis 12.8 (0.1) 37.3 (0.4) 5.0 (0.1) 74.4 (0.1) 12.9 (0.1) 10.9 (0.2) 5.7 3.4 1.0 
III-7 73, 79 (8.5), 85 10.7 (0.6) Bruising 12.2 37.5 (0.1) 5.0 (0.1) 74.1 (0.3) 14.9 17.3 (0.2) 5.0 9.1 1.8 

Data are mean (SD). Ranges in parentheses indicate the reference range of each parameter, as reported by the laboratory that performed the corresponding test. ALC, absolute lymphocyte count; AMC, absolute monocyte count; ANC, absolute neutrophil count; F, female; M, male; max, maximum; MCV, mean corpuscular volume; min., minimum; RDW, red cell distribution width; WBC, white blood cell.

a

Age at time of study.

or Create an Account

Close Modal
Close Modal