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Sickle cell disease

Anaemia drepanocytica · Srpkovitá anémie

What it is

One base change makes haemoglobin polymerise; cells stiffen into crescents and block vessels.

Symptoms & signs

  • Severe pain crises
  • swollen hands and feet in infants
  • anaemia
  • infections
  • stroke
  • acute chest syndrome
  • leg ulcers

🚩 Get help if…

  • call 112 / 911 now Fever over 38 °C
  • call 112 / 911 now Chest pain, cough or breathlessness
  • call 112 / 911 now Sudden weakness, slurred speech or a fit
  • call 112 / 911 now Painful erection lasting over 2 hours

Where it strikes

Medical treatment

  • Hydroxyurea — roughly halves pain crises (MSH trial) trials support
  • Voxelotor (withdrawn worldwide in 2024 over excess deaths) and crizanlizumab (withdrawn in the EU after its confirmatory trial failed) not confirmed in trials
  • transfusion programmes
  • penicillin prophylaxis and vaccination
  • stem-cell transplant
  • opioid crisis protocols
  • Exagamglogene (Casgevy) and lovotibeglogene (Lyfgenia) gene therapies — approved 2023 (Lyfgenia in the US only); most treated patients crisis-free in trials, long-term data limited

Natural & lifestyle

  • Hydration
  • avoid cold and altitude
  • folate
  • prompt fever review
  • pain plans agreed in advance

Emerging & experimental

  • Base editing
  • HbF-inducing small molecules

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • L-glutamine (Endari) — approved in the US after a trial with fewer crises mixed evidence
  • Omega-3 — a small trial reduced crises early / small studies
  • Niprisan (a Nigerian herbal remedy) — small trials early / small studies

ICD codes