β-thalassemia is a prevalent disease, mainly common in areas that suffer from malaria. Reduced or lacking synthesis of the β-haemoglobin chain results in unbalanced α-haem chains. Oxidative stress on erythrocytes due to the aforementioned unbalanced α-chains leads to apoptosis. The patient suffers from, amongst others, pallor, breathlessness and deformed bones. There are several mutations that can lead to the disease, with point mutations being the main culprit. Not just the mutations, but also genetic modifiers influence the length and structure of the produced β-chain, which can lead to unexpected severities or the exact opposite, depending on the modifier and its place in the DNA. Further research into genetic modifiers could prove useful. Not just in terms of diagnosis and prediction of severity, but also in development of treatment and disease management.
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