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Prothrombin Poissy: a new variant of human prothrombin.
British Journal of Haematology
|June 1, 1987
Summary
A novel congenital dysprothrombinemia was identified in a newborn girl with severe bleeding. This
Area of Science:
- Hematology
- Genetics
- Biochemistry
Background:
- Congenital dysprothrombinemias are rare inherited bleeding disorders.
- Prothrombin (Factor II) is a critical protein in the coagulation cascade.
Observation:
- A newborn female presented with severe bleeding from day two of life.
- Coagulation tests revealed prolonged prothrombin time and activated partial thromboplastin time.
- Low prothrombin activity (2%) but elevated prothrombin antigen (47%) with abnormal electrophoresis.
Findings:
- A new form of dysprothrombinemia, termed 'lazy' dysprothrombin, was identified.
- Family studies indicated heterozygous carriers with both normal and abnormal prothrombin.
- The abnormal prothrombin demonstrated slow and incomplete activation in vitro.
Implications:
- This case expands the spectrum of known dysprothrombinemias.
- Understanding 'lazy' dysprothrombin is crucial for diagnosis and management of bleeding disorders.
- Further research into the molecular basis of this variant is warranted.