Blood Research

Clinicopathological characteristics of the study population.

Clinicopathological parameters Disease severity
Severe Moderate Mild
(Factor IX <1%), N=102 (68%) (Factor IX 1–5%), N=30 (20%) (Factor IX >5%), N=18 (12%)
Mean factor IX levels (%) 0.6±0.2 2.5±1.3 8.0±2.6
Family history of bleeding (N) 80 10 7
Mean age of onset (yr) 2.0±1.0 7.5±2.8 10.0±3.5
Mutation frequency (within group) 48% (49/102) 86.7% (26/30) 83.3% (15/18)
Inhibitor-positive (N) 23 11 4
Inhibitor-negative (N) 79 19 14
Hemoglobin concentration Normal Normal Normal
Platelet count Normal Normal Normal
Prothrombin time Normal Normal Normal
Activated partial thromboplastin time High High High
Bleeding sites
Joints 55 (54%) 19 (63.3%) 12 (66.7%)
Gum 17 (16.7%) 6 (20%) 4 (22.2%)
Muscle 13 (12.7%) 1 (3.3%) 2 (11.1%)
Epistaxis 7 (6.9%) 4 (13.3%) 0
Petechiae 10 (9.8%) 0 0
Blood Res 2021;56:252~258 https://doi.org/10.5045/br.2021.2021016
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