Paediatrics: Haemophilia: Free MSRA Podcast

🧑‍⚕️ FREE MSRA PODCAST – Haemophilia: Bleeding Disorders DemystifiedReady to master haemophilia for the MSRA? In this episode, we break down the genetics, presentation, and modern management of Haemophilia A and B—so you can spot it, manage it, and ace the exam. Listen for mnemonics, red flags, and clinical pearls from UK paediatric guidelines.🧠 Key Learning Points📌 Definition & Types• Haemophilia = Inherited clotting disorder due to deficiency of clotting factors• A = Factor VIII deficiency (most common, ~1 in 5,000 males)• B = Factor IX deficiency (~1 in 20,000 males)• Mnemonic: “A for Eight, B for Nine”📌 Genetics & Risk Factors• X-linked recessive inheritance: Mostly affects males• Females are carriers, may have mild bleeding symptoms• Key risk factor: Family history• Can arise spontaneously via new mutations📌 Pathophysiology• Deficient/defective clotting factor → Disrupted coagulation cascade• Prolonged/inadequate clotting → Excessive bleeding after injury or spontaneously• Classic finding: Hemarthrosis (bleeding into joints), especially knees/elbows/ankles📌 Clinical Presentation• Symptoms: Prolonged bleeding, easy bruising, spontaneous bleeds (joints, muscles, mucous membranes)• Bleeding after minor trauma, dental work, or surgery• Severe cases: Diagnosed in infancy (e.g. after heel prick, circumcision)• Signs: Painful swollen joints (child refuses to walk), chronic joint disease if untreated• Complications: Intracranial haemorrhage (serious), anaemia📌 Differential Diagnosis• Von Willebrand disease• Platelet disorders• Acquired causes (liver disease, medications)📌 Diagnosis• Screening: Prolonged APTT, normal PT and fibrinogen• Definitive: Clotting factor assays (VIII or IX activity)• Genetic testing for family planning & carrier detection• Prenatal diagnosis possible (CVS)📌 Management• Factor replacement therapy: IV infusions—on-demand for minor, prophylactic for severe cases• Prophylaxis = Gold standard for severe haemophilia• Physiotherapy to prevent joint damage• Monitor for inhibitors (antibodies to factor)• Multidisciplinary care: Paediatrics, haematology, physio, psychology, genetic counselling📌 Complications• Joint damage (arthropathy): Recurrent bleeds → cartilage destruction, chronic pain• Serious bleeds: Intracranial, gastrointestinal, muscle bleeds• Inhibitor development: Factor therapy may stop working📌 Prognosis• Modern prophylaxis = Near normal life expectancy• Key: Early diagnosis, consistent treatment, family support📎 More MSRA Revision Resources for Haemophilia:📝 Revision Notes: https://www.passthemsra.com/topic/haemophilia-revision-notes/🧠 Flashcards: https://www.passthemsra.com/topic/haemophilia-flashcards/💬 Accordion Q&A: https://www.passthemsra.com/topic/haemophilia-accordion-qa-notes/🚀 Rapid Quiz: https://www.passthemsra.com/topic/haemophilia-rapid-quiz/🎓 Paediatrics Course: https://www.passthemsra.com/courses/paediatrics-for-the-msra/#MSRA #Haemophilia #MSRARevisionNotes #MSRAQuiz #MSRAFlashcards #MSRAAccordions #Paediatrics #ClottingDisorders #HaemophiliaA #HaemophiliaB #Xlinked #ChildHealth #UKGuidelines