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Drexel professor investigates rare blood cancer

Anisha Madappa

Issue date: 7/31/09 Section: News
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Media Credit: Mike Arrison

In the past couple of years researchers have discovered a high occurrence of a very rare blood disorder in the Schuylkill-Carbon-Luzerne county area.

Polycythemia Vera, which is diagnosed in 1 in 100,000 people annually, is classified as a cancer because stem cells in the bone marrow do not respond to the normal signals to stop reproducing red blood cells, according to the Agency for Toxic Substances and Disease Registry. The overproduction can lead to blood clots, strokes, and heart attacks.

One of the many researchers that has been trying to solve the puzzle of what has been causing the multiple cases of PV is Drexel University Professor Arthur Frank. Frank, along with his team, is going to perform case control studies later this fall.

A case control study is when researchers "start with the [PV] identified cases and match them with controls that are similar without the disease," Dr. Frank said. "[The similarities] can be anything: female, male, diet, medical history, [different types of] exposures."

Twenty-five years ago, studies showed that a possible cause might be significant exposure to radiation or chemicals such as benzene, embalming fluid or petroleum products. However, due to various tests and surveys administered by ATSDR, it was concluded that among the confirmed cases of PV in the Schuylkill-Carbon-Luzerne county area, there were no similarities in occupation, ancestry, lifestyle choice or environment exposures.

A similarity that ATSDR did find was a mutated gene called JAK2. Because JAK2 is present in 95 percent of PV patients, identifying the source of this mutation may help to figure out what causes PV.

Recently, in the affected areas, free blood testing is being offered to residents to find out if the mutated gene, JAK2, is present. "The benefit of having the test done is knowing whether you carry the JAK2 genetic marker," ATSDR toxicologist Vince Seaman said. "If I lived here, I would get tested."

Individuals that find that they are at risk for PV before the initial symptoms occur may be able to take medication that could delay symptoms of the disorder. For the time being though, there's not much the authorities can tell the residents of the Schuylkil-Carbon-Luzerne county areas to do.

"What can you tell people to do different[ly] if you don't know what's causing it?" Dr. Frank said.

Though Dr. Frank's research team doesn't start until fall, he is thinking about looking to the Drexel community to find a research assistant.
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