ATSDR offers intriguing preliminary details on polycythemia vera study

There's a story in today's Allentown Morning Call that offers some preliminary details about the U.S. Agency for Toxic Substances and Disease Registry's investigation into the unusually high rate of polycythemia vera in the Hometown area, the full findings of which are set to be officially released on Saturday, Sept. 29 at Genetti Inn near Hazleton. It opens:

The rate of a rare blood disease in Schuylkill, Carbon and Luzerne counties is higher than normal. But a toxicologist who participated in a months-long study of the illness cautions that the investigation involved only a small group of people, a "significant number" of whom lacked the gene mutation present in almost everyone who has the illness.

The mutation referred to is the JAK2 mutation (misidentified in the article as "Jack 2"). The study participants were subjected to genetic testing to determine whether or not they had that mutation. The article quotes ATSDR researcher Vince Seaman:

"We used that to verify whether people really had p. vera or not," he said. "There are very few cases that you would truly have the disease and you wouldn't have that mutation. We were able to actually nail down the people who truly had it as opposed to the people who truly didn't have it."

That raises some questions.

First, if there are in fact a "very few cases" where people "truly" have polycythemia vera but don't have the mutation, then are any of these local cases among that rare group? The article does not say.

Also, if patients are being diagnosed with polycythemia vera but don't have the characteristic genetic mutation, then what do they have? Polycythemia vera has a pretty unusual complex of symptoms. If they're not being caused by the JAK2 mutation, could they be related to another genetic mutation that has not yet been identified -- or perhaps to some sort of environmental poisoning whose symptoms mimic polycythemia?

After all, a statistical analysis I conducted with the help of a cancer researcher found an association between high rates of polycythemia vera reported to the state cancer registry in populous Pennsylvania counties and the proximity of waste-coal-burning power plants.

Stay tuned...