The Curious Clinicians 84 - History & Hemochromatosis: The Ins and Outs of Iron
Feb 21, 2024
Delving into the evolutionary advantage of hereditary hemochromatosis and its link to iron regulation. Exploring the historical context and implications of HFE gene mutations on health. Examining the connection between hemochromatosis, iron accumulation, and infections like tuberculosis. Discussing how genetic variations may have influenced resistance to diseases and impacted athletic performance. Exploring the survival advantages conferred by HFE gene variants and ongoing immune-related research.
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HFE Gene and Hemochromatosis Variants
- Hereditary hemochromatosis commonly involves mutations in the HFE gene, affecting iron absorption and homeostasis.
- The two main variants are H63D and C282Y, prevalent mostly in Northern Europeans.
Neolithic Diet Drove Mutation Advantage
- The HFE gene mutations likely evolved to increase iron absorption after the Neolithic Revolution introduced low-iron cereal and milk diets.
- These variants helped Northern Europeans avoid iron deficiency from iron-chelating effects of cereals and low iron in cow's milk.
Infection Pressures Affected Mutation
- HFE mutations provided resistance to infections like tuberculosis by reducing iron availability inside macrophages, limiting bacterial growth.
- Conversely, they increased susceptibility to certain iron-loving blood bacteria like Yersinia pestis (plague).