Sickle cell disease — inherited haemoglobinopathy
Sickle cell disease (SCD) results from inheritance of HbS — polymerises under deoxygenation → rigid sickled erythrocytes → vaso-occlusion and haemolysis.
~15,000 UK patients — predominantly Black British communities
Newborn screening — early penicillin saves lives
Genetics
| Genotype | Severity |
|---|---|
| HbSS | Most severe — sickle cell anaemia |
| HbSC | Moderate |
| HbS beta-thal | Variable |
| HbAS (trait) | Carrier — usually asymptomatic |
Pathophysiology
Vaso-occlusion:
- Bone pain crises
- Dactylitis (hand-foot) — infants
- Splenic sequestration — children
- Stroke — children — transcranial Doppler screening
Chronic haemolysis:
- Anaemia — Hb 6–9 typical
- Jaundice
- Gallstones
- Aplastic crisis — parvovirus B19
Acute emergencies
Fever ≥38°C — A&E same hour — overwhelming pneumococcal sepsis
Acute chest syndrome:
- Chest pain + fever + infiltrate on X-ray
- Exchange transfusion may be needed
Stroke — sudden weakness, speech change
Priapism >2 hours
Splenic sequestration — ** sudden splenomegaly, collapse**
Long-term care
Specialist centre annual review:
- Hydroxycarbamide — raises HbF, reduces crises
- Transcranial Doppler — children
- Renal, eye, hip monitoring
- Folic acid daily
Vaccinations:
- Pneumococcal, meningococcal, influenza, COVID
Pain management:
- Individualised crisis plan
- Don’t undertreat — opioid stigma harms
Pregnancy
High-risk — joint clinic
Exchange transfusion programmes — selected centres
SCD patient with fever — never “wait until morning” — sepsis kills in hours.
Common questions about sickle cell disease
- What is sickle cell disease?
- Inherited condition — two abnormal haemoglobin S genes (homozygous HbSS commonest) or combinations with other haemoglobin variants. Red cells sickle under low oxygen — block small vessels — pain and organ ischaemia. Chronic haemolytic anaemia — fatigue, jaundice, gallstones.
- What is a sickle cell crisis?
- Vaso-occlusive crisis — sudden severe pain in bones, back, chest, abdomen — triggered by cold, dehydration, infection, stress. Treat with opioids, hydration, oxygen if hypoxic. Acute chest syndrome — chest pain, fever, hypoxia — leading cause of death — emergency admission.
- How is sickle cell disease treated?
- Penicillin prophylaxis in children until at least 5. Full vaccination schedule including pneumococcal. Hydroxycarbamide reduces crises — most take from childhood. Blood transfusions for stroke prevention or severe anaemia. Crizanlizumab or voxelotor in selected cases. Curative option — stem cell transplant — selected children with matched donor.
- What is sickle cell trait?
- Carrier state — one HbS gene — usually healthy. Can have blood in urine after extreme exertion (rhabdomyolysis risk with severe dehydration — military, elite sport caution). Both partners should know trait status before pregnancy — genetic counselling.
- Can people with sickle cell disease live normal lives?
- Yes with specialist support — school/work adjustments, avoid extreme cold and dehydration, recognise early infection. Chronic pain and fatigue affect quality of life — psychology and pain teams help. Life expectancy improving — median now 50s–60s in high-income countries with good care.
Sources
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