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Inherited factor X deficiency in two brothers
S Barik1, A Budhraja, M Bhalla
1Department of Pathology and Haematology, Jawahar Lal Nehru Hospital and Research Centre, Bhilai-Durg, India.
Indian Journal of Pathology & Microbiology
|January 1, 1997
Summary
Two brothers with inherited Factor X deficiency experienced severe bleeding (hemarthrosis). Diagnostic tests confirmed extremely low Factor X activity, less than one percent, in both affected siblings.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Inherited coagulation factor deficiencies are rare genetic disorders.
- Factor X deficiency is an autosomal recessive bleeding disorder.
- Severe Factor X deficiency can lead to significant hemorrhagic complications.
Observation:
- Two brothers from the same family presented with severe hemarthrosis.
- The elder brother was diagnosed at age 4.5 years in 1991.
- The younger brother presented with hemarthrosis at 1.5 years of age.
Findings:
- Diagnostic evaluation included coagulation factor screening, Prothrombin time, Activated partial thromboplastin time, Russell's viper venom test, mixing studies, and Factor X assay.
- Both brothers exhibited Factor X activity below one percent.
- This confirmed a diagnosis of severe inherited Factor X deficiency.
Implications:
- Early diagnosis and management are crucial for patients with severe Factor X deficiency.
- Genetic counseling is important for families with inherited bleeding disorders.
- Understanding the genetic basis and clinical spectrum of Factor X deficiency aids in patient care.