Background
Polycythemia vera (PV) - PV is a rare illness that causes the body to
make too many red blood cells. The most common symptoms of PV are blood
clots, heart attacks and strokes. PV has no known cause. A few studies,
published more than 25 years ago, reported that PV could possibly be
caused by exposure to chemicals (benzene, embalming fluid, petroleum
products) or radiation.
In 2004, a change (mutation) in a gene called JAK2 was found to occur
in most PV patients. This mutation is not inherited and causes bone
marrow cells to constantly make red blood cells – even when the body
signals them to stop. This discovery has now led scientists to search
for the cause of the JAK2 mutation in hopes that this knowledge will
help them find the cause of PV.
ATSDR Investigation
In October 2006, the Pennsylvania Department of Health requested
ATSDR’s help in investigating a high number of PV cases reported in
Carbon, Luzerne, and Schuylkill counties. ATSDR was asked to make sure
that the reported cases actually had PV, and to find any other cases of
PV in the tri-county area. A survey of the possible cases was conducted
to collect information on work and residence histories, health status,
and other factors that might be related to PV. ATSDR’s field work began
in November 2006, and was completed in July 2007. In October 2007, ATSDR
held a community meeting in Hazleton, Pennsylvania to discuss its
findings. ATSDR issued a
news
release summarizing the findings. On August 25, 2008, ATSDR
presented the final results of the investigation to the public.
ATSDR’s conclusions were:
- A recently-discovered biomarker, JAK2, was used to confirm 33 cases
of PV.
- The confirmed cases had no common occupations, ancestry, lifestyle
choices or exposures.
- The cancer registry did not accurately reflect the true number of PV
cases in the area.
- In some areas, the PV rates were higher than the rest of the
tri-county area, however, only one of these areas was statistically
significant.
- There were potential environmental exposure sources common to some
of the high-rate areas.
- It is not known whether a relationship exists between any of these
sources and the PV cases. This investigation was not designed to study
such relationships.
- Further, the cause of PV is unknown; hence, it is difficult to link
the illness to any environmental agent or any other factor.
- More research is needed to understand the reasons for the high rate
of PV in this area.
Future Work
- ATSDR and PADOH organized a meeting of PV experts to identify and
discuss future research activities. This Expert Panel met on August 25,
2008, in Philadelphia, PA, and will make their recommendations public in
late September, 2008.
- PADOH will continue to monitor PV occurrence.
- The Centers for Disease Control and Prevention will continue to
evaluate state and national registry reporting systems for PV and other
diseases.
Selected Resources for the Reader
NEW! An Investigation of
Polycythemia Vera in the Tamaqua Area of Northeast Pennsylvania:
Final Report [PDF, 114KB] |
Report Figures [PDF, 205KB]
JAK2 Mutation Screening for Diagnosis of Polycythemia Vera and Other
Chronic Myeloproliferative Disorders
NEW!
Polycythemia Vera Incidence in the Tamaqua Area of Pennsylvania -
Community Slide Presentation [PDF, 1841KB]
Polycythemia Vera (review article in American Family Physician)
Tamaqua Area Cancer Incidence Study Report 1996-2002