This archive report was first published on 2 July 2020.
July 2, 2020, marked a century since the first recorded patient with sickle cell disease (SCD) was identified in America. Walter Clement Noel, a young medical student of African descent from Grenada, was the first documented case.
Despite a century of research, SCD remains a significant challenge. The disease was initially thought to be due to a hereditary phenomenon affecting the haemoglobin chains in red blood cells, but it wasn't until 1950 that this understanding was confirmed.
For decades, the only pharmacological treatment for SCD was hydroxyurea, which was first repurposed in 1995. However, the first cure of SCD through bone marrow transplant occurred in 1984, albeit incidentally, as the patient was being treated for leukaemia.
SCD diagnosis has benefited from technological advances, including basic microscopy and genome sequencing. The designation of SCD as an orphan disease by regulatory agencies has spurred interest in product development for therapeutic agents.
However, the prevalence of SCD in African countries remains high, with about one to two percent of the population affected. The carrier status of SCD is above 20 percent in many African countries, with the Lake Victoria Basin having a prevalence of SCD carriers at 25 percent.
There is a renewed interest in understanding the magnitude of SCD disease in sub-Saharan Africa, with the aim of improving the survival and quality of life for those with SCD. Pan-African networks of research groups are developing databases across different countries to create large cohorts of people living with SCD.
Several clinical trials of existing drugs are being repurposed for the management of SCD, and new molecules have shown promising results. Gene editing technologies are also being explored as potential alternatives to bone marrow transplant.
However, collaboration is necessary for the treatment of SCD, as the disease is a multisystem condition. Pharma companies, academia, philanthropists, and disease consortia will need to work with researchers from SCD-endemic countries to identify promising interventions.
Well-characterised cohorts of people living with SCD are essential to understand what interventions are likely to improve their quality of life and provide a cure. Comprehensive care centres linked through a functional programme that provides holistic care for persons living with SCD are necessary.
Community screening is a crucial strategy in reducing the SCD burden, especially in settings like Kenya with high prevalence of the disease. Operational research is also necessary to inform what interventions will work best for a particular community prior to their deployment.
Dr. Bernhards Ogutu, a senior researcher at the Kenya Medical Research Institute, highlights the importance of collaboration and research in addressing the challenges of SCD.
