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 |