Treatment and follow-up of children with sickle cell disease (SCD)

Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy characterized by β-globin gene mutations, which result in the production of a structurally abnormal hemoglobin that polymerizes at low oxygen saturation, thereby causing the formation of thromboses. Even though SCD is particularly common in other parts of the world, it is estimated that 40 infants are born with the disease each year in Quebec.

Although a provincial newborn screening program for SCD will soon be implemented, only a few Quebec hospitals have expertise in caring for children with sickle cell anemia. Moreover, the protocols to treat and follow up these children differ from one institution to the next. Therefore, clinical practice should be standardized when it comes to emergency and primary health care.

After conducting a critical analysis of clinical practice guidelines used in other countries, including the United Kingdom and France, the Institut national d’excellence en santé et en services sociaux has come to the following conclusions:

• The two national guidelines analyzed (those from NICE and the NHS in the UK) along with the HAS protocol (France) are of good methodological quality.

• According to the documents consulted, treatment and follow-up protocols or guidelines for children with SCD should address the care of both severe and chronic complications, while taking into account the training and information to be given to key clinical and community actors as well as the social and cultural components associated with the disease.

As part of implementing a provincial newborn screening program for SCD, Quebec should draw on the content of these guidelines when drafting the treatment and follow-up protocol.