Rare blood disease mix-up?
DONALD R. SERFASS/TIMES NEWS "Do the hemochromatosis people really have polycythemia vera," asks Robert Gadinski at Thursday's public forum on a rare blood disease in our area. The session took place at the Carbon County Emergency Management Center, Nesquehoning.
Is it possible that some folks diagnosed with a blood disease involving a build-up of iron might actually be suffering from a rarer blood disease found in unusual clusters in Carbon, Schuylkill and Luzerne counties?
The condition of iron build up in the blood is called hemochromatosis and it can look like polycythemia vera, the disease currently being investigated in the local area.
At a public forum held Thursday at the Carbon County Emergency Management Center, 1264 Emergency Lane, Nesquehoning, a member of the Tri-County Polycythemia Vera Community Action Committee (CAC) pointed out that symptoms of the two blood diseases are very similar. Robert Gadinski, Ashland, a Schuylkill County hydrogeologist and former employee of the state Department of Environmental Protection, said the issue needs to be studied, especially in looking for the prevalence of a JAK2 genetic mutation found in those with polycythemia vera.
"Do the hemochromatosis people really have polycythemia vera," asked Gadinski. "Should the JAK2 testing be extended to people diagnosed with hemochromatosis? There are similarities in the symptoms and in the illness itself."
Hemochromatosis is an inherited disease in which too much iron builds up in the body. It is one of the most common genetic diseases in the United States. The rarer polycythemia vera is not inherited, but is acquired, although the cause is not known.
Representatives of the study panel agreed to look into Gadinski's concerns.
Last night's forum, led by CAC Chairman Joe Murphy, Hometown, included a presentation by a team from the University of Pittsburgh coordinated by Jeanine Buchanich. The forum came on the heels of several days of local research by the university team. The session was quickly organized and had limited advance publicity or media notification by the university.
The university is working with the Pa. Department of Health to do an expansion of the original PV study, using data from the Pennsylvania Cancer Registry. Buchanich wants to see as many as possible take part.
"We're looking to identify cases that haven't been sent to the Cancer Registry," said Buchanich. Before the wrap-up session in Nesquehoning, her team had spent several days in the Wilkes-Barre, Pottsville and Hazleton areas interviewing residents and meeting with health professionals.
"We talked to people in the area and obtained 'consents' from local PV patients," she said, calling the trip a success. She emphasized, however, that additional cooperation is still needed.
"We need people to consent (to take part in the study) and to sign their medical records information release," said Buchanich, adding that a target study completion date is September, 2012.
The study is examining incidences of three blood disorders plus a form of leukemia, and represents just one portion of a multipronged effort aimed at investigating reports of cancer clusters in the three-county region.
About $8.8M is being spent in research and investigations coordinated by the federal Agency for Toxic Substances and Disease Registry (ATSDR) and the CAC.
According to Murphy, some 130 cases of PV had been reported to the Registry between 2006-09 including 67 cases in 2007, but the total working number today is actually down to 33 cases.
"Some have died, some couldn't be located and some chose not to participate," explained Murphy.
The forum included a conference call with Dr. Henry Cole, Maryland, and Elizabeth Irvin-Barnwell, leader of the PV project at the Centers for Disease Control, Atlanta.
Before the session, one participant noted that reported cancer cases appear to suggest the presence of similar PV clusters in the Shamokin-Mt. Carmel area of Northumberland County and in the Danville area of Montour County.
Research into the cause of the cancers has been under way for several years. Currently, scientists are gathering data and interviewing residents to determine whether there is a continuing cluster of the rare blood disorder, which can lead to blood clots, heart attacks and strokes.
The Pa. Department of Environmental Protection has been sampling drinking water, and taking dust and soil at the homes of study participants.
In addition, workers have tested water and sediment samples at the McAdoo Superfund site and cogeneration plants in the area.
A team from Drexel University is trying to identify risk factors for the disease.
In other PV-related news, Murphy is organizing the Betty Kester Alliance for a Healthy Future, a 501(c) 3 named for the woman who led the early charge in the fight against PV. She and her husband, residents of Ben Titus Road in Still Creek, both passed away from the illness.
The alliance will pick up where the CAC group ends, aided by grants. Funding for the CAC group stopped almost one year ago. Murphy has been personally financing efforts to create the alliance in order to sustain the work of the CAC group and its scientific advisory team.
Offers of assistance, either in manpower or monetary, can be directed to the alliance. More information is available at (570) 668-9099.