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Congenital factor X deficiency in Japan
The Tohoku Journal of Experimental Medicine
|January 1, 1981
Summary
Congenital factor X deficiency is a rare inherited bleeding disorder. This study examined three Japanese cases, confirming classical factor X deficiency through hemostatic and immunological assays.
Area of Science:
- Hematology
- Genetics
- Rare Diseases
Background:
- Congenital factor X deficiency is an extremely rare inherited coagulation disorder.
- Only 43 cases globally and 2 in Japan have been reported previously.
Observation:
- Three pediatric and adolescent cases (18M, 11M, 6F) in Japan were studied.
- Hemostatic tests revealed prolonged prothrombin time, partial thromboplastin time, and decreased serum thromboplastic activity.
- Stypven-cephalin clotting time was also abnormal in all cases.
Findings:
- Factor X activities were significantly low (1.5-4.5%) across all cases.
- Radioimmunoassay confirmed low levels of factor X (0.15-0.47 microgram/ml), consistent with classical deficiency.
- Half-lives of infused factor X ranged from 24 to 56 hours, aligning with existing literature.
Implications:
- This study expands the documented cases of congenital factor X deficiency in Japan.
- Provides detailed hemostatic and immunological data for this rare bleeding disorder.
- Contributes to understanding factor X kinetics and diagnosis in affected individuals.