A

                              Guide to  

                          the Genetics of

                  Polycythaemia Vera (Rubra)

                                   &

                  Essential Thrombocythaemia

                              'PV & ET'

Introduction



Polycythaemia Vera (PV) is a disease in which there is an uncontrolled and excessive production
of red blood cells. The disease is uncommon, but the number of people with the condition is rising
for a number of different reasons.

The first is because our populations are ageing - and PV is most commonly found in people
of about 60 years of age;

the second reason is because more and more people are having routine blood tests
- so PV is being detected early in the course of the disease;

and thirdly, there is now a genetic test for the disease, looking for the mutation 'JAK2 V617F'
- and people with a 'positive' result are often considered as having PV, even if they are without symptoms.


In most people the condition is slowly progressive as the production of excessive number of red blood cells
increases over the years. 

However, PV can occur at any age, although it is uncommon in childhood.

And it is possible to consider PV & ET as:

Stage:				Blood picture								Treatment

- Pre-symptomatic	a positive 'JAK2 V617F' test result			Possibly daily aspirin
- Mild				minor blood count changes				Daily aspirin
- Moderate			significant increase red cell production		Daily aspirin and phlebotomy
- severe				severe complications						Cytoreduction therapy


Please see the other pages on this website for more detail.