Management of sickle cell diseaseBMJ 2008; 337 doi: https://doi.org/10.1136/bmj.a1397 (Published 08 September 2008) Cite this as: BMJ 2008;337:a1397
- Mariane de Montalembert, paediatrician
- 1Service de Pédiatrie Générale, Hôpital Necker, 75015 Paris
Care for patients with sickle cell disease requires a network of doctors
Patients with sickle cell disease should receive annual follow-up investigations, such as blood counts, hepatic and renal tests, transcranial Doppler ultrasonography for children, heart and liver ultrasonography
Immunisation is needed for pneumococcus, Haemophilus influenzae type B, meningococcus, and influenza virus
The most frequent complications are painful crises, acute anaemia, and infections
Patients sometimes need admission to intensive care, in particular for treatment of refractory pain and for exchange transfusion
Patients and their families need education and support
Genetic counselling and prenatal diagnosis may be offered to at-risk couples
About 250 000 children are born with sickle cell disease every year. Although most people with the disease live in Africa, where the sickle mutation appeared several thousand years ago,1 sickle cell disease has become common in the United States and Europe since the migration of African people. About 60 000 people in the United States and 10 000 in the United Kingdom have the disease.2 In our increasingly multiethnic world, a patient with sickle cell disease can present to almost any doctor. As well as specialist services, these patients need help from their general practitioners to cope with everyday life.
Clinical severity of the disease has extreme phenotypic variability across patients: a minority have few complications and their disease is clinically unapparent; a majority have intermediate forms; and another minority have severe complications including sepsis, strokes, recurrent painful episodes, acute chest syndrome, pulmonary hypertension, and priapism. Interaction of environmental factors with genetic polymorphisms is the most likely explanation of this variability.3 Sickle cell disease can undermine the quality of life of both patients and carers.4 5 Improvements in the management of the disease have greatly reduced mortality in affected children followed up since neonatal screening.
What is sickle cell disease and how does it manifest?
Sickle cell disease …