Sickle cell disease (SCD) is a genetic disorder that is characterised by a chronic anaemia occurring almost exclusively in individuals of African descent. Individuals afflicted with SCD are homozygous for a key mutation in haemoglobin, whereas individuals who are heterozygous for this mutation are generally asymptomatic and are said to have sickle cell trait. But, fortunately, individuals carrying just one copy of the sickle
mutation were known not to develop sickle cell anemia, leading rather
normal lives. It was discovered by Linus Pauling (two-times Nobel laureate).
Example of sicke cell trait. Picture from www.transfusionguidelines.org.uk |