Abstract
In this issue of Blood, guided by clinical observations and needs, Gong et al have identified a germline missense mutation in DNA methyltransferase 1 (DNMT1), a ubiquitously expressed key epigenetic regulator, as a cause of hereditary persistence of fetal hemoglobin (HPFH). HPFH protects against β-thalassemia and sickle cell disease (the β-hemoglobinopathies). Discussed here is how these findings by Gong et al continue the pioneering role of the β-hemoglobinopathies as a model of discovery for all biomedicine. Sickle cell disease, after all, is the “first molecular disease”: altered migration of sickle vs normal hemoglobin in gel electrophoresis demonstrated, for the first time, that the structure–chemical basis for disease is discoverable and knowable.
MeSH terms
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Hemoglobinopathies* / diagnosis
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Humans
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beta-Globins