Haemophilia

• What are the two types of haemophilia mentioned in the summary?

  Haemophilia A and B
• What causes Haemophilia A and B?


  Deficiencies in clotting factors VIII and IX respectively
• How do Haemophilia A and B typically present in patients?


  With deep and severe bleeding into soft tissues, joints, and muscles
• What is the method used to diagnose haemophilia?


  Factor assay
• What treatment is used for minor bleeds in Haemophilia A?


  Desmopressin
• What treatments are used for major bleeds in Haemophilia A and B?


  Recombinant factor VIII for A and recombinant factor IX for B
• What type of inheritance pattern do Haemophilia A and B follow?


  1. linked recessive
• What is the prevalence of Haemophilia A in men worldwide?


  1 in 5,000 men
• What is the prevalence of Haemophilia B in men worldwide?


  1 in 25,000 men
• What percentage of mutations causing Haemophilia A are inherited?


  70%
• What are the typical signs and symptoms of haemophilia?


  Spontaneous deep and severe bleeding into soft tissues, joints, and muscles
• What historical complication was a major cause of mortality in severe haemophilia?


  Cerebral haemorrhage
• What are the differential diagnoses for haemophilia?


  • Von Willebrand Disease
  • Rare factor deficiencies (I, V, VII, X, XI, XIII)
  • Platelet disorders (e.g., ITP)
  • Liver disease
  • Haematological malignancies
  • Trauma
  • Infectious diseases (e.g., dengue fever)
  • Vasculitis (e.g., Henoch-Schönlein purpura)
  • Drug-induced thrombocytopenia
• What is the diagnostic test for severe haemophilia A or B?


  Factor VIII/IX assay
• What is the clinical severity classification for mild and moderate haemophilia based on factor levels?


  Mild haemophilia >5% and moderate haemophilia 1–5%
• What does an elevated APTT indicate in blood tests for haemophilia?


  It indicates a clotting profile abnormality
• What supportive management is recommended for patients with haemophilia?


  Vaccination against hepatitis B, hydrotherapy, and dental advice
• What is a potential complication of treatment for severe haemophilia A?


  Development of an inhibitor to factor VIII
• What has improved the life expectancy for patients with haemophilia A and B?


  Blood product-free concentrates
• What historical issues were associated with haemophilia treatment before viral screening?


  • High levels of viral transmission (HIV, hepatitis C)
  • Resulted in AIDS, hepatocellular carcinoma, and death
  • Exposure to prions causing Creutzfeldt–Jakob disease
• What is the current status of viral transmission in haemophilia treatment?


  Viral transmission is no longer an issue due to recombinant factor VIII use