This archive report was first published on 5 July 2020.
Published on July 5, 2020, by Bernhards Ogutu, a senior researcher at the Kenya Medical Research Institute, highlights the neglect of sickle cell disease in research and treatment options despite a century of trials.
The first recorded patient with sickle cell disease was a young medical student of African descent from Grenada named Walter Clement Noel, who was diagnosed in America around 1910.
It took 40 years to determine that sickle cell disease was due to a hereditary phenomenon affecting the haemoglobin chains in red blood cells.
Since then, few treatment modalities have been developed, with hydroxyurea being the only pharmacological treatment available until the second decade of the 21st century.
However, hydroxyurea was first repurposed in 1995, and its use was limited until then.
The first cure of sickle cell disease through bone marrow transplant occurred in 1984, but it was incidental, as the patient was being treated for leukaemia.
Despite technological advances in diagnosis, such as genome sequencing, the disease remains poorly understood, and treatment options are limited.
The designation of sickle cell disease as an orphan disease by regulatory agencies has spurred interest in product development for therapeutic agents.
However, the prevalence of sickle cell disease in African countries is high, with one to two percent of the population affected, and the carrier status is above 20 percent.
Community screening and comprehensive care centres are essential to get well-characterised sickle cell disease cohorts and improve the quality of life for those affected.
