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Agency for toxic substances issues results of screenings

Published May 12. 2010 05:00PM

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

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

It was 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 percent) 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.

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, visit the PV website at:

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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