Sickle cell disease is an inherited haemoglobinopathy.
Sickle cell haemoglobin (HbS) results from an autosomal recessively inherited mutation in which the 17th nucleotide of the beta globin gene is changed from adenine to thymine and the amino acid glutamic acid is replaced by valine at position 6 in the beta globin chain.1 2
This is a companion discussion topic for the original article at https://patient.info/doctor/haematology/sickle-cell-disease-and-sickle-cell-anaemia-pro