84 - History & Hemochromatosis: The Ins and Outs of Iron
Feb 21, 2024
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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.
HFE gene mutations may have provided an evolutionary advantage by aiding in iron absorption during dietary shifts in the Neolithic age.
Hereditary hemochromatosis and HFE gene variants interact with the immune system, influencing infection susceptibility and immune responses.
Deep dives
Understanding Hereditary Hemochromatosis
Hereditary hemochromatosis, often caused by variants in the HFE gene, leads to iron overload and affects various organ systems. It typically presents around 40 to 50 years old, with manifestations like cirrhosis and iron buildup in the liver, joints, heart, and endocrine glands. Genetic variations like H63D and C282Y play key roles in hereditary hemochromatosis, offering insights into the body's iron regulation and potential health implications.
Evolutionary Advantage of HFE Gene Variants
HFE gene variants, prevalent in populations of European ancestry, might have conferred an evolutionary advantage by aiding in iron absorption during dietary shifts in the Neolithic age. The prevalence of these variants may have also been influenced by selective pressures related to infections such as tuberculosis and salmonella typhae during the Middle Ages. These variants could have provided protection against iron deficiencies and infections, shaping their prevalence over time.
Immunological Implications of HFE Gene Mutations
Hereditary hemochromatosis and HFE gene mutations may interact with the immune system, impacting responses to infections like mycobacterium tuberculosis and your cine species. The MHC-like structure of HFE proteins suggests potential involvement in immune processes and responses. Genetic variations in HFE may influence inflammatory cytokines and immune cell subsets, affecting infection susceptibility and immune system function.
Clinical Considerations and Athletic Implications
Individuals with iron overload should be assessed for hereditary hemochromatosis, regardless of their ancestry. Recent studies link HFE gene mutations to enhanced performance in aerobic sports, highlighting a potential link between these variants and improved oxygen carrying capacity. The multifaceted benefits and implications of HFE gene variants extend beyond iron regulation, impacting immunity and even athletic achievements.
The Curious Clinicians examine why the genetic mutations leading to hereditary hemochromatosis might have offered an evolutionarily advantage to our Neolithic ancestors. The answer relates to an old breakfast stalwart- cereal and milk!
This episode is sponsored by Audible! New members can try Audible free for 30 days using our own Curious Clinicians podcast code - visit Audible.com/TCCPOD or text TCCPOD to 500-500.
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