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Although there were some early reports of sickle cell disease in the late nineteenth century, the first time that the disease was referenced in literature was in 1910. There were several case reports that followed this, as well as public awareness and funded scientific research, which led to the knowledge and improved outcomes of the disease today.
On the 15th of November 1910, Dr. James Herrick made the first official description in published literature of sickle cell disease. The cardiologist had a young patient, Walter Clement Noel, from the Caribbean island of Grenada with the disease under his care. He displayed symptoms of what we now refer to as acute chest syndrome, a common complication of sickle cell disease.
The blood film of the patient clearly shows the characteristic shape of haemoglobin, that is the distinctive feature of homozygous sickle cell disease. This was well before the introduction of haemoglobin electrophoresis, the test currently used to diagnose the disease, but there is widely accepted that the patient suffered from SCD.
Shortly after, a female patient aged 25 years was described with symptoms of sickle cell disease. She had been in medical care for some years but had previously been diagnosed with a form of pernicious anemia with unusual characteristics.
Similarly to the first case, the patient had a blood film that clearly demonstrated the form of sickle haemoglobin cells.
The third recorded case was a 21-year-old female that once again showed the blood film that was indicative of sickle cell disease.
The blood film of the father was also examined, which made this case particularly notable. It was noted that while there were no abnormalities evident in the fresh blood sample, some abnormal cells were evident after a few days. This became the first crude test of sickle cell disease and was the first time the disease as an inherited condition had been suggested.
A 21-year-old male patient was the fourth case of sickle cell disease in published literature, and the first case that used the terminology of “sickle cell anaemia.”
This paper by Verne Mason noted a common link between the first four recorded cases of the disease: origins in Africa. This led to a common belief in the following years that the disease was limited to this population group, although this was not found to be sound logic. Other populations are also affected by sickle cell disease, including those from the Arabian Gulf, central India, Mediterranean area in northern Greece and southern Italy and eastern Turkey.
In this period of time, there were more case reports of patients with sickle cell disease, strengthening the medical knowledge of the disease.
It was in this time that terminology about the disease developed, including the “active” and “latent” forms of the disease, which was later clarified to be heterozygous and homozygous inheritance.
At this time, some association between sickle cell trait and increased resistance against falciparum malaria was also observed.
For the first time in 1949, electrophoresis showed that sickle haemoglobin moved at a different rate to normal haemoglobin, suggesting a molecular change in the abnormal cell.
When haemoglobin electrophoresis became widely available in 1954, opportunities to differentiate between different forms of sickle cell disease became possible. This led to sub-classification of the disease, as we refer to them today.
Throughout the 1970s, there were several health organisations that expressed an interest in sickle cell disease and helped to create awareness and raise funding for research. As a result of this research, the life expectancy and quality of life for patients with the disease has improved dramatically.
These advances included:
Research studies concluded that the early life period between six months and one year was most likely to lead to serious events, which could be fatal or severely impact quality of life. This knowledge led to the rise of newborn screening to identify newborns that were at risk, a measure that has proved to be of great benefit.