Although Sickle Cell Disease (SCD) is the most frequent haemoglobinopathy worldwide, it remains a rare blood disorder in most western countries. Globally, an estimated 5% of the world’s population are carriers of rare haemoglobinopathies, with over 300,000 sufferers of SCD worldwide. SCD is usually endemic in individuals whose ancestors originate from Sub-Saharan Africa, the Middle East and the Mediterranean, and is therefore more frequent in Non-white populations in the US and UK.
SCD encompasses a group of genetic disorders which result from a single point mutation in the beta globin chain. This results in the distortion of the shape of the Red Blood Cells (RBCs), causing them to take on a crescent shaped appearance. These crescent shaped cells are unable to take in as much as oxygen as normal RBCs, leading to poor blood oxygen levels as well as the premature break down of the RBCs, both of which cause anaemia and immeasurable damage to vital organs in the body.
There are several haemoglobin mutations which can give rise to various types of SCD, all of whose populations have been segmented in the Epiomic™ Database. The Epiomic™ database reveals patient population data by country for the most commonly associated co-morbidities this disease gives rise to. Due to widespread migration, SCD populations are now found all over the world, making the recognition of this disease and its significant patient populations critical.
Being a carrier of sickle cell disease can help provide protection against malaria during childhood, so in places where malaria has been widespread the genes have become more prevalent!