Diagnosing Myelofibrosis

Diagnosing a myeloproliferative neoplasm (MPN) can be challenging. There are often no symptoms in the early stages of the conditions, and even when there are symptoms such as fatigue, these may be mistaken for signs of other diseases.


Your doctor will use a combination of laboratory tests, which examine the blood and bone marrow, and physical examinations to diagnose MPNs.


Here’s what to expect.


Physical exam: Your body is checked for anything else that seems unusual. Your doctor will also compile a history of your health, any relevant lifestyle information, past illnesses and treatments. Complete (or full) blood count: A sample of blood is taken and checked for:

  • The number of red blood cells and platelets.
  • The number and type of white blood cells.
  • The amount of haemoglobin (the protein that carries oxygen) in the red blood cells.
  • The portion of the blood sample made up of red blood cells.

Bone marrow aspiration and biopsy: Bone marrow, blood and a small piece of bone will be removed by inserting a hollow needle into the hipbone or breastbone. It will be checked for abnormal cells. Cytogenetic analysis: The cells in a sample of blood or bone marrow are checked under a microscope for changes in the chromosomes. One of the most commonly looked for changes to diagnose MPNs are the presence of the Philadelphia chromosome.


In addition a peripheral blood smear is used to diagnose primary myelofibrosis. A sample of blood is checked for tear drop-shaped red blood cells (often caused by the blood cells squeezing through the tight fibrosis in the marrow), as well as the number and kinds of white blood cells; a platelet count is also taken, and the presence of blast (or immature) blood cells checked.


A mutation test is also used to find out whether you have the JAK2V617F mutation, which occurs in around 50% of MF cases.