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. And, as disussed elsewhere on this website, increasing maternal age may also be leading to an increase in the number of people who are diagnosed as having PV. 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.