Primary Myelofibrosis: When Your JAK2 Gene Hijacks Your Health

Your health could seriously be jacked if you have the JAK2 gene. Why? You’re likely affected by primary myelofibrosis, a genetic mishap that causes scarring in the bone marrow.

Of course, you may dodge that bullet, but research has shown the presence of the JAK2 gene in 50% of diagnosed cases. The median age at the time of diagnosis is 65, but it can occur in people of all ages.

If scarring in the bone marrow is severe enough, the production of healthy blood cells can grind to a halt. And then what happens? Other organs in the body try to take over making those blood cells, especially the spleen and/or liver–which then become enlarged.

Primary myelofibrosis is a rare blood cancer in the same family as lymphoma. Some people show no symptoms during the earliest phase of the disease, so treatment can be delayed. Others require symptomatic relief, such as:

  • treating for anemia
  • having blood transfusions
  • antibiotic therapy to avoid infections

There is no cure for primary myelofibrosis.

It’s generally regarded as a chronic disease, but with treatment many people can remain comfortable and symptom-free for some time.

The natural course of the disease, and the trajectory of progression, varies from person-to-person. In mild cases, patients can live comfortably for a very long time with the proper treatment. Unfortunately, others can go on to progress into acute myeloid leukemia.

For more information, The Oncology Nursing Community.

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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