Haem: Hereditary Spherocytosis: Free MSRA Podcast

🎙️ Deep Dive: Hereditary Spherocytosis – Red Cell Breakdown Demystified 🩸🧬🧪Welcome back to the Deep Dive series! Today, we’re cracking open a key haematology topic that crops up in the MSRA, paediatrics, and GP exams alike — Hereditary Spherocytosis (HS). Let’s get crystal clear on what makes red blood cells turn from flexible discs to fragile spheres — and why it matters. 🧠✨🔍 What you’ll learn in this episode:✅ Definition→ HS is a genetic haemolytic anaemia due to red blood cell membrane protein defects (think: ankyrin, spectrin, band 3, protein 4.2).→ It causes spherical, less flexible red cells that get destroyed in the spleen = chronic haemolysis 🔁✅ Inheritance→ Mostly autosomal dominant (~75%)→ Also can be autosomal recessive or from de novo mutations 🧬→ Strong link with family history 👨‍👩‍👦✅ Pathophysiology→ Cytoskeletal defects = loss of surface area→ Red cells become spherocytes 🏀→ Increased fragility, get trapped and destroyed in the spleen → anaemia→ ↑ MCHC due to dehydration of spherocytes→ Think: spleen = the villain & the victim 🦠✅ Clinical Features→ Classic triad: Anaemia, Jaundice, Splenomegaly→ Gallstones from chronic haemolysis→ Failure to thrive in children→ Risk of aplastic crisis from Parvovirus B19→ Mnemonic: “JOGGS OF FAILURE” – Jaundice, Organomegaly (spleen), Gallstones, Growth delay, Spherocytes✅ Differentials→ Autoimmune haemolytic anaemia (AIHA)→ Key distinction: Direct Coombs test is negative in HS, positive in AIHA ✅→ Also consider: transfusion reactions, liver disease, burns, hereditary stomatocytosis, ABO incompatibility in neonates 🧾✅ Epidemiology→ Prevalence: ~1 in 2000–5000→ Most common hereditary haemolytic anaemia in people of Northern European descent 🌍✅ Investigations→ Blood film: spherocytes + polychromasia→ FBC: anaemia, ↑ MCHC→ Reticulocyte count: elevated→ Unconjugated bilirubin, LDH↑, Haptoglobin↓→ Direct Coombs: negative→ Specialised tests: Osmotic gradient ektacytometry, membrane protein electrophoresis, genetic testing→ Mnemonic: PHIL RED = Peripheral film, Haptoglobin, Iron studies, LDH/LFTs, Retic count, Ektacytometry, Direct Coombs✅ Management→ Folic acid 💊 – for high red cell turnover→ Transfusions – if severe or during aplastic crisis→ Splenectomy – for moderate to severe disease (curative)→ Vaccinations + lifelong penicillin if splenectomy is done→ Be cautious: Don’t splenectomise if diagnosis is unclear or if there's co-existing hereditary stomatocytosis✅ Complications→ Gallstones (bilirubin-based) – may need cholecystectomy→ Aplastic crisis – parvovirus B19 🦠→ Hemolytic crises, megaloblastic crisis (if folate deficient), splenic sequestration→ Post-splenectomy sepsis – hence the vaccine and antibiotic need!✅ Prognosis→ Generally excellent with supportive care and splenectomy→ Most live normal, healthy lives 💪→ A minority may remain transfusion-dependent📚 Your MSRA Revision Toolbox for HS:📝 Revision Notes:https://www.passthemsra.com/topic/hereditary-spherocytosis-revision-notes/🃏 Flashcards:https://www.passthemsra.com/topic/hereditary-spherocytosis-flashcards/📖 Accordion Q&A Notes:https://www.passthemsra.com/topic/hereditary-spherocytosis-accordion-qa-notes/🧠 Rapid Quiz:https://www.passthemsra.com/topic/hereditary-spherocytosis-rapid-quiz/🧪 Quiz Link:https://www.passthemsra.com/quizzes/hereditary-spherocytosis/📌 Key Takeaway:Hereditary Spherocytosis = fragile red cells, filtered by the spleen, fixed with folate and sometimes a splenectomy.Spot the spherocytes, rule out AIHA, manage wisely — and don't forget your vaccines post-splenectomy!#MSRA #HaematologyMSRA #HereditarySpherocytosis #MSRARevision #MSRAFlashcards #MedicalEducation #HaemolyticAnaemia #Spherocytes #PassTheMSRA #ParvovirusCrisis #SplenectomyGuidelines #FolicAcid #JOGGSofFailure