In response to the CMAJ editorial on neglected diseases,1 I would like to draw attention to sickle cell disease.
Now is an exciting time to be involved in both the research of sickle cell disease and the care of individuals with the disease. With changes in patterns of immigration, this condition is becoming more prevalent across all regions of Canada. In recent years, a dramatic increase in the understanding of the associated pathophysiology and genetics has led to excellent childhood interventions that have a substantial impact on morbidity and mortality. With the use of penicillin prophylaxis and childhood immunization, sickle cell disease has become a lifelong disorder rather than an indicator of early childhood death. Blood transfusions have effectively combatted the high prevalence of stroke in children with sickle cell disease, thereby reducing disabilities.
These successes bring new challenges. All medical practitioners in Canada — regardless of their geographic location and working environment (e.g., emergency department, family medical office, hospital) — must be aware of sickle cell disease and be willing and competent to participate in the management of affected individuals. This single gene blood disorder is now considered a phenotypically variable, multisystem disease caused by chronic ischemia-reperfusion injury and vascular endothelial remodelling. As such, it is an ideal disease to facilitate research across various medical specialties and a breadth of basic science realms in an era of collaboration and discovery. Its genetic basis also permits next generation genomics to further enable future progress and understanding.
The Canadian Haemoglobinopathy Association is composed of a multidisciplinary group of health care providers dedicated to the advancement of sickle cell disease in Canada. We will issue the first Canadian standards for the care of affected patients in Canada. This is an opportunity to educate the wider health care community about this chronic multisystem blood disorder. I encourage CMAJ to join us in this work.