92 Years Later, A Sickle-Cell Surprise

Dr. Jeffrey Taubenberger of the National Institutes of Health looked into a microscope this summer and saw something unexpected. He had been looking for evidence of a flu virus. Instead, he found the earliest known proof of sickle-cell anemia. Host Liane Hansen interviews Maryn McKenna of Wired magazine about the chance discovery of the first tissue sample of sickle-cell anemia.

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LIANE HANSEN, host:

This is WEEKEND EDITION from NPR News. I'm Liane Hansen.

Dr. Jeffrey Taubenberger, of the National Institutes of Health, looked into a microscope this summer and saw something unexpected. He had been looking for evidence of a flu virus. Instead, he found the earliest known proof of sickle-cell anemia. That's a hereditary disease that disproportionately affects African-Americans.

Maryn McKenna wrote about the discovery for Wired magazine's website. And she joins us from Georgia Public Broadcasting in Atlanta. Welcome to the program.

Ms. MARYN MCKENNA (Journalist, Wired Magazine): Thank you so much.

HANSEN: Let's start this great story. The sickle-cell anemia finding came from the tissue sample of an African-American soldier who died in 1918. Why did this sample still exist, and why was it kept in storage for so long?

Ms. MCKENNA: This is such an amazing story. So to know why this sample existed, you actually have to go back to the Civil War. In the Civil War, Abraham Lincoln told his surgeon general to collect records and tissue samples from any military death, and to store them. And they've been storing tissue samples from the military ever since, in an institution in Washington, D.C., that's now called the Armed Forces Institute of Pathology.

And most of that archive has never been gone into. But this very clever researcher, Jeff Taubenberger, a number of years ago thought maybe he could use those samples - he worked at this institute - to illuminate the history of the 1918 flu. He asked for samples to be brought up and he did, in fact,. recover that flu virus, after more than a dozen years of work. But along the way, he found this completely unexpected finding as well.

HANSEN: Tell us a little bit about the soldier.

Ms. MCKENNA: He was 21 years old. He was in a segregated company at what was then called Camp Funston. It's now called Fort Riley; it's in Kansas. He developed symptoms in the summer of something that seemed to be flu or pneumonia, and he was kind of sick for a couple of days. He had a roaring fever. His chest hurt. He had a cough that didn't produce anything.

He went to the base hospital, and they couldn't do anything for him. It was 1918. Alexander Fleming didn't discover penicillin until 1928. And so after a couple of days, he died.

HANSEN: You use the word amazing to describe the story. It's actually the first line of the story. Elaborate. I mean, what's makes it so amazing?

Ms. MCKENNA: There are so many resonances in this. First, sickle-cell disease was only first described in 1910 and that was a single case - an African immigrant - who was written up by a doctor in Chicago. They didn't even start to call it sickle-cell disease until 1922, and then they only had four cases. But these slides from 1918 show, in the small blood vessels in the lungs of this soldier, the sickle-shaped cells. And that's the first sighting, ever, of these cells. So it illuminates the past of this disease.

But what makes it so especially interesting and poignant, and worthy of bringing back to notice, is that it also illuminates current health questions today that have to do with athletes and people who are working really hard, and who may be subject to sickle-cell disease and not know it.

HANSEN: Elaborate on that a little bit because the discovery, as you just said, has more than just historical significance. How, exactly, is it relevant to medical practice today?

Ms. MCKENNA: It's always been assumed, in sort of general medical knowledge, that in order to suffer from full-blown sickle-cell disease, you have to have two copies of the relevant gene - one from each parent. If you only have one copy, then you have what's called sickle-cell trait - which is essentially silent, but you can pass the trait down to your descendents.

Now, this soldier had only sickle-cell trait and yet, when you look at the slides of his lungs, he was having a sickle-cell crisis as though he had full-blown disease. Jeff Taubenberger sussed out that what was going on is that the pneumonia that he had put him into a state of high exertion and low oxygenation. And that, along with the single gene, precipitated him into the crisis that he shouldn't have had to have.

Now, the reason why that's relevant today is that people have started to realize that anyone who carries even a single copy of the gene, who ought not to be at risk of sickle-cell disease, is at risk if they're also in a state of high exertion or low oxygenation. And where that's particularly relevant is for athletes.

It's so relevant that this past spring, the National Collegiate Athletic Association proposed that any African-American athlete should be tested for the single gene - for sickle-cell trait - to see if they're in danger of precipitating themselves into a sickle-cell crisis in the course of playing sports.

HANSEN: Maryn McKenna wrote about the discovery of the earliest proof of sickle-cell anemia for Wired magazine's website. She spoke to us from Georgia Public Broadcasting in Atlanta. Thank you very much.

Ms. MCKENNA: Oh, thank you.

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