The Iron in Our Blood That Keeps and Kills Us

[xchrom]

http://www.theatlantic.com/health/archive/2013/01/the-iron-in-our-blood-that-keeps-and-kills-us/266936/



An ambulance rushed Dr. Malcolm Casadaban to a Chicago emergency department with labored breathing and three days of fever, body aches, and cough. He died twelve hours later as heart, lungs, kidneys, and liver failed under the burden of overwhelming infection. Bacterial cultures of his blood eventually revealed the characteristic rods of Yersinia pestis. Somehow, the MIT-and Harvard-trained scientist died of septicemic plague -- the Black Death -- in Hyde Park, Chicago, in September of 2009.

Investigators soon learned that Casadaban studied this organism in his laboratory at the University of Chicago, but they could not explain how the bacterium bit the hand that cultured it. Remembered as "one of the most creative and influential geneticists of our time," during his career he furthered our understanding of science and disease. Unexpectedly, he continues to do so in death.

Autopsy revealed that Dr. Casadaban unknowingly suffered from hereditary hemochromatosis, a genetic disease leading to a toxic accumulation of iron in his organs. A modern manifestation of an ancient DNA mutation, this disorder can be traced to a single unknown ancestor who lived millennia ago. This mutation allowed her (or him) to more readily absorb iron from food, which may have unexpectedly aided survival in lean times -- possibly at the expense of iron-overload in later generations. We know little about the disease's founder, but we do know that she survived long enough to pass one copy of the gene to her children, and eventually, to nearly one in ten individuals of northern European ancestry.

The mutation's surprising frequency and peculiar fondness for those of Irish, British, and Scandanavian heritage offers a unique opportunity for scientists and historians to study how the world of our ancestors may have shaped the landscape of modern disease. Researchers look to DNA analysis to solve a lingering biohistorical puzzle: Is the hemochromatosis gene common because it is an unintended consequence of natural selection, or because it is a relatively fresh glitch in the human genome with little time to spread to other regions?

[Xipe Totec]

1. Amazingly, genealogical research I did on my own family alerted me

Early deaths of massive heart disease in the 30's, 40's and 50's, liver, lung, and stomach cancers... There seemed to be no pattern to it and then, researching a particular bloodline of redheaded ancestors I stumbled upon the web site for the American Hemochromatosis Society:

http://www.americanhs.org/

I sent out an alert to my living relatives and so far 3 relatives have been confirmed with the disease and are undergoing treatment. Two of them my brothers, the other one a nephew suffering a neurological disorder that had the doctors stumped, until my nephew's father had the doctors test him for hemochromatosis.

Ironically, (no pun intended) I turned out not to have it.

[rurallib]

2. is the treatment essentially bleeding the patient?

Sometimes when I have given blood, I see some patients in another room. I was told that they were hemochromatosis patients and had to come in to be bled once a month.

[Xipe Totec]

3. That's exactly right nt

[ellenfl]

4. kick for later. eom

[lizerdbits]

5. Interesting

My mom isn't eligible to donate blood (had hep A as a teenager) but they take a pint every once in a while because her iron is high. I should look into that.

[bemildred]

6. If it spread that quickly and widely, it is no fluke, there is/was reproductive advantage in it. nt