this post was submitted on 19 Nov 2024
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For the curious: https://www.nejm.org/doi/10.1056/NEJMoa072464?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub++0www.ncbi.nlm.nih.gov
ELI5
Basically this mutation is shown to protect against malaria, but it causes an issue with producing a molecule needed for the creation of ATP (energy your body needs)
So while they can offer a protective effect to the subject they could need transfusions or other treatment to stay healthy.
Subject 1 & 2 had similar biomarkers, and subject 3 had different markers causing a type of misread that made them transfusion dependent.
That’s my understanding at least