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Causes
By Mayo Clinic staffMyelofibrosis occurs when a genetic mutation occurs in blood stem cells. Blood stem cells have the ability to replicate and divide into the multiple specialized cells that make up your blood — red blood cells, white blood cells and platelets.
It's not clear what causes the genetic mutation in blood stem cells. As the mutated blood stem cells replicate and divide, they pass along the mutation to the new cells. As more and more of these mutated cells are created, they begin to have serious effects on blood production. The end result is usually a lack of red blood cells — which causes the anemia characteristic of myelofibrosis — and an overabundance of white blood cells with varying levels of platelets. In people with myelofibrosis, the normally spongy bone marrow becomes scarred.
The gene mutation that occurs in most people affected by myelofibrosis is sometimes referred to as JAK2. Other gene mutations also may be associated with myelofibrosis.
- Hoffman R, et al. Primary myelofibrosis. In: Hoffman R, et al. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa.: Churchill Livingstone Elsevier; 2009. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-0-443-06715-0..X5001-8--TOP&isbn=978-0-443-06715-0&uniqId=230100505-56. Accessed Dec. 29, 2010.
- Mesa RA. New drugs for the treatment of myelofibrosis. Current Hematologic Malignancy Reports. 2010;5:15.
- Alchalby H, et al. Reduced-intensity conditioning followed by allogenic hematopoietic stem cell transplantation in myelofibrosis. Current Hematologic Malignancy Reports. 2010;5:53.
- Idiopathic myelofibrosis. Leukemia & Lymphoma Society. http://www.leukemia-lymphoma.org/attachments/National/br_1190656475.pdf. Accessed Dec. 30, 2010.
- Thorium. Agency for Toxic Substances and Disease Registry. http://www.atsdr.cdc.gov/toxfaqs/tfacts147.pdf. Accessed Dec. 30, 2010.
- Jakafi (prescribing information). Wilmington, Del.: Incyte Corporation; 2011. http://www.accessdata.fda.gov/scripts/cder/drugsatfda. Accessed Nov. 23, 2011.
- Stein BL, et al. Janus kinase inhibitors: An update on the progress and promise of targeted therapy in the myeloproliferative neoplasms. Current Opinion in Oncology. 2011;23:609.
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