Final Health Screening Report Released in Polycythemia Vera Investigation

Schuylkill County, Tamaqua, Pennsylvania

Tuesday, May 11, 2010

The Agency for Toxic Substances and Disease Registry has released its final report regarding the Community Health Screening for the JAK2 genetic marker.

This is the first time large scale screening for this JAK2 genetic mutation has been done in the United States. The frequency of the mutation in the general population is not known. The federal Agency for Toxic Substances and Disease Registry (ATSDR) conducted the screenings in partnership with the Pennsylvania Department of Health and Mt. Sinai School of Medicine.

Following two rounds of community health screening in northeastern Pennsylvania for the JAK2 genetic marker, 19 (1.6%) of the 1,170 persons tested were found to have this mutation. Five persons were previously diagnosed with polycythemia vera (PV) or a similar blood disease.

The community health screening was done in response to recent studies that found an increased number of cases of polycythemia vera (PV) in Schuylkill, Luzerne, and Carbon counties in northeastern Pennsylvania.

Since the JAK2 genetic marker was identified in 2004, studies have shown that this mutation is present in approximately 95 percent of patients with PV. Patients with related conditions, essential thromboycytosis (ET) and primary myelofibrosis, also can carry the mutation. Scientists do not yet know whether the mutation occurs in otherwise healthy people.

Scientists also do not know how prevalent the mutation is in the general population, or whether everyone who has the mutation will develop PV or a related blood disease. To help answer these questions, ATSDR is supporting work to determine how commonly the JAK2 mutation occurs in the general population inside and outside of the tri-county area.

For more information about the PV investigation, please visit the PV Web site at: http://www.atsdr.cdc.gov/sites/polycythemia_vera/.

ATSDR, a federal public health agency of the U.S. Department of Health and Human Services, evaluates the human health effects of exposure to hazardous substances.

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Members of the press can request an interview with ATSDR staff by calling the NCEH/ATSDR Office of Communication at 770-488-0700.

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Related News Releases For Schuylkill County, Tamaqua, Pennsylvania

 

ATSDR Presents Update on Polycythemia Vera Research
Release Date: Friday, September 14, 2012
The Agency for Toxic Substances and Disease Registry (ATSDR) will update community members on the polycythemia vera (PV) research projects in the tri-county area of Schuylkill, Luzerne, and Carbon Counties, PA on September 20, 2012 in Tamaqua, PA.

Latest Findings Released in Polycythemia Vera Investigation
Release Date: Tuesday, December 08, 2009
Following two rounds of community health screening in northeastern Pennsylvania for the JAK2 genetic marker, 19 (1.6%) of the 1,170 people tested were found to have this mutation. This is the first time large scale screening for this JAK2 genetic mutation has been done in the United States. The frequency of the mutation in the general population is not known. The federal Agency for Toxic Substances and Disease Registry (ATSDR) conducted the screenings in partnership with the Pennsylvania Department of Health and Mt. Sinai School of Medicine.

ATSDR Slates October 24 Public Meeting on Polycythemia Vera
Release Date: Thursday, October 15, 2009
The federal Agency for Toxic Substances and Disease Registry (ATSDR) will hold a public meeting in the Tamaqua Area Auditorium at Tamaqua High School, 500 Penn St, Tamaqua, PA, on Saturday, October 24, 2009 from 10:00 to 11:30 a.m. to update area residents on recent efforts regarding polycythemia vera (PV).

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