GPAtlasπ§ When to suspect
Sickle cell disease (SCD) is the most common inherited condition in the UK and an autosomal recessive haemoglobinopathy: sickle haemoglobin (HbS) arises from a single amino-acid substitution in the Ξ²-globin chain, which polymerises when deoxygenated and deforms red cells into rigid sickle shapes. These cells occlude small vessels and haemolyse, producing painful crises, chronic anaemia and progressive organ damage. Almost all cases in the UK are picked up by newborn screening, so in primary care SCD is usually a known diagnosis β the GP's job is to recognise an acute crisis early, drive prevention, and never dismiss sickle pain.
Suspect an acute crisis in any known patient presenting with sudden severe pain, fever, breathlessness or chest pain, or new neurological symptoms. Common precipitants are infection, cold, dehydration, hypoxia, physical or psychological stress, and alcohol.
| Acute crisis to recognise | Key features |
|---|---|
| Vaso-occlusive (painful) crisis | The commonest crisis β sudden severe pain in bones, joints, chest, back or abdomen; often triggered by infection, cold or dehydration. |
| Acute chest syndrome | Fever, cough, chest pain and hypoxia with a new infiltrate on chest X-ray β a leading cause of death; admit. |
| Splenic sequestration | Sudden pallor, abdominal distension and a rapidly enlarging spleen with shock β mainly young children. |
| Aplastic crisis | Sudden drop in haemoglobin with a low reticulocyte count β classically parvovirus B19. |
| Acute stroke | New focal neurology, seizures or altered consciousness β a haematological emergency. |
| Priapism | A prolonged, painful erection (lasting more than 1β2 hours), or worsening recurrent "stuttering" episodes. |
In undiagnosed individuals (rare in the UK because of newborn screening), consider SCD in someone of African, Caribbean, Middle Eastern, Mediterranean or Indian/Asian heritage with unexplained haemolytic anaemia and recurrent unexplained pain.
Source: NICE Β· Sickle Cell Society Β· NHS Sickle Cell & Thalassaemia Screening Programme
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