2007.08.28 – BLOOD DISEASE STUDIED IN 3 COUNTIES

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Blood disease studied in 3 counties

State to reveal findings of probe in Schuylkill, Carbon and Luzerne.

By Chris Parker
Of The Morning Call
August 28, 2007

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 study was prompted by residents who have suspected for years that industrial chemicals leaching from the McAdoo Associates Superfund site in Kline Township have caused illnesses, including the blood disease polycythemia vera. Scientists have yet to pin down what causes the illness.

”We believe there is a higher incidence of polycythemia vera in this area than there should be,” Vince Seaman, a toxicologist with the federal Agency for Toxic Substances and Disease Registry, said Monday. ”What we have to do is figure out what that means, and figure out what should be the next step.”

The area Seaman referred to is where Carbon, Schuylkill and Luzerne counties meet.

The state Department of Health and the U.S. Centers for Disease Control and Prevention on September 29 will announce details of the study.

While the rate of the disease was found to be elevated in the area, it’s hard to compare to national or other state’s rates because the local study looked at both those in the registry and those who were not.

Statistics in other states are based on registered cases, Seaman said.

The small pool of subjects – 72 – concerns Seaman.

He said scientists started with the 97 people in the three counties who were diagnosed between 2001 and 2005 and listed in the state’s registry. The state has required doctors to report cases only since 2001.

Of the 97, some couldn’t be found, some had died and others declined to participate, leaving only 38 to study, Seaman said.

”Right there, that’s a problem,” he said. ”We weren’t able to talk to as many people in the registry as we would have liked to.”

The agency asked people with the disease who were not in the registry to come forward, and 34 did.

To confirm the diagnoses, the participants were tested for a gene mutation called Jack 2 that is present in the bone marrow of almost everyone who has polycythemia vera, Seaman said.

”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.”

There was also a group of people whose medical records could not be found or who did not submit blood for testing, he said.

Seaman said he did not have exact numbers of those who did or did not have the mutation, but ”there was a significant number of cases that did not have [polycythemia vera], that were either in the registry, or that had self-reported.”

The false cases in the registry may have been due to reporting errors, confusion and other factors.

”The registry data was a little bit inaccurate,” Seaman said.

Nonetheless, the data will be helpful when scientists figure out what causes the disorder, and begin looking to see if the cause is present in the area, Seaman said.

Many residents believe materials from the Superfund site have leached into nearby wells and the Still Creek Reservoir, about a mile from the site, where Tamaqua gets its water. DEP has tested the reservoir and the wells and has said the water in them meets federal safety standards.