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The complications of sickle cell disease (SCD) arise from the presence in red cells of the mutated haemoglobin, HbS, which replaces the normal adult Hb, HbA. HbS has a single amino acid substitution whereby valine replaces glutamic acid in the 6th codon of the β chain. Most SCD patients inherit two copies of the sickle gene (homozygous HbSS individuals - sometimes termed sickle cell anaemia, SCA). About a third of SCD patients co-inherit HbS with a second abnormal Hb, HbC, in which lysine replaces glutamic acid in the same codon (heterozygous HbSC individuals).
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Gibson et al. (2016) studied this question.
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