HFE Gene Associated with Three Times the Risk of Stroke

A mutation in the hemochromatosis gene (HFE) has been associated with a three times higher risk of stroke in a group of 9000 people in Denmark. The H63D mutation (His63Asp) changes the size or function of the HFE protein so that it can’t play a part in regulating the amount of iron that enters cells. If the HFE protein does not bind to the transferrin receptors at the cell surface, excessive amounts of iron enters the cell and leads to iron overload. Those with two copies of the H63D HFE gene variant had a 180% great risk of stroke than those with two normal copies. The exact role of the HFE gene in stroke risk isn’t understood.

Coincidentally, I finally got around to starting Sharon Moalem’s Survival of the Sickest and the first chapter deals with hemochromatosis. From an interview at Bloomberg.com:

Robin D. Schatz: What is hemochromatosis?

Moalem: It’s a condition where you absorb too much iron from the diet. The problem is, all of that iron that you’re absorbing from your diet ends up in organs, and rusting them out, essentially. So you can end up with diabetes and liver cancer.

So it didn’t make any sense to me: Why would such a high percentage of the population have something that appears to be negative? And the more I dug, I came to the conclusion, by putting different information together, that it probably protected past populations in Europe against the bubonic plague.

Tags: hemochromatosis, hfe gene, genetics, genes, dna, genome, sharon moalem, jonathan prince, survival of the sickest, diseases, illness, health, medicine, iron