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Mutations of the β-globin gene (HBB) cause sickle cell disease and β-thalassaemia, collectively named the β-haemoglobinopathies. As mankind’s most common severe genetic diseases, where they are most prevalent, public health systems can be stressed.1–3 Asymptomatic heterozygous carriers are protected ...
Sickle cell disease (SCD) encapsulates a group of inherited disorders arising from a single amino acid substitution in the β-chain of haemoglobin. This mutation results in the production of sickle haemoglobin (HbS), which polymerises when deoxygenated and leads to red ...
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