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Pathology - Haemophilia
Definition • An inherited predisposition to bleeding resulting from a deficiency of either factor VIII (haemophilia A) or factor IX (haemophilia B).
Epidemiology Haemophilia A manifests in around 1 in 5,000 to 10,000 male births. Haemophilia B is rarer, with an incidence of about 1 in 20,000 to 30,000 male births. Genetics • The genes for factor VIII and factor IX are situated on the X chromosome, resulting in haemophilia exhibiting sex-linked inheritance, mostly affecting males. • A multitude of mutations have been documented, resulting in significant variability in the severity of haemophilia.
Pathogenesis Factors VIII and IX collectively constitute the factor VIII-factor IX complex, which activates factor X in the coagulation cascade. The absence of these factors hinders coagulation.
Presentation: • Susceptibility to bruising and significant hemorrhage following trauma or surgical procedures. • Spontaneous hemorrhages into major weight-bearing joints, including the knee, elbow, and ankles (hemarthroses), are prevalent. Coagulation assays • Both types of haemophilia result in an extended APTT and a normal PT. • The two can only be differentiated by assessing the levels of each factor.
Prognosis: The primary treatment intervention is the replacement of the deficient component. • Factor concentrates are aggregated from numerous donors and present a significantly elevated risk of infection transmission. • While rigorous donor screening and viral inactivation processes mitigate this danger, there is a trend towards the adoption of synthetic factors.
Definition • An inherited predisposition to bleeding resulting from a deficiency of either factor VIII (haemophilia A) or factor IX (haemophilia B).
Epidemiology Haemophilia A manifests in around 1 in 5,000 to 10,000 male births. Haemophilia B is rarer, with an incidence of about 1 in 20,000 to 30,000 male births. Genetics • The genes for factor VIII and factor IX are situated on the X chromosome, resulting in haemophilia exhibiting sex-linked inheritance, mostly affecting males. • A multitude of mutations have been documented, resulting in significant variability in the severity of haemophilia.
Pathogenesis Factors VIII and IX collectively constitute the factor VIII-factor IX complex, which activates factor X in the coagulation cascade. The absence of these factors hinders coagulation.
Presentation: • Susceptibility to bruising and significant hemorrhage following trauma or surgical procedures. • Spontaneous hemorrhages into major weight-bearing joints, including the knee, elbow, and ankles (hemarthroses), are prevalent. Coagulation assays • Both types of haemophilia result in an extended APTT and a normal PT. • The two can only be differentiated by assessing the levels of each factor.
Prognosis: The primary treatment intervention is the replacement of the deficient component. • Factor concentrates are aggregated from numerous donors and present a significantly elevated risk of infection transmission. • While rigorous donor screening and viral inactivation processes mitigate this danger, there is a trend towards the adoption of synthetic factors.
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