Clinical haematology · UKMLA & AKT

Sickle cell disease

A free high-yield preview for the UKMLA Applied Knowledge Test. Below are the key points to recognise sickle cell disease — the full SA Note notes add investigations, management, complications and 10 practice questions.

Key high-yield points

  • Single point mutation in HBB gene: glutamate → valine at codon 6, producing HbS
  • Deoxygenated HbS polymerises → rigid sickle cells → microvascular occlusion + chronic haemolysis
  • Red cell lifespan 10-20 days (normal 120 days) → chronic haemolytic anaemia with high reticulocyte count
  • Repeated splenic infarctions → autosplenectomy → functional hyposplenism → Howell-Jolly bodies persist on blood film

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