GTR Home > Conditions/Phenotypes > Primary myelofibrosis

Summary

Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.\n\nInitially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising.\n\nBecause blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain.\n\nPrimary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age. [from MedlinePlus Genetics]

Available tests

119 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CALR1, CRT, HEL-S-99n, RO, SSA, cC1qR, CALR
    Summary: calreticulin

  • Also known as: JTK10, JAK2
    Summary: Janus kinase 2

  • Also known as: C-MPL, CD110, MPLV, THCYT2, THPOR, TPOR, MPL
    Summary: MPL proto-oncogene, thrombopoietin receptor

  • Also known as: IDDM20, LNK, SH2B3
    Summary: SH2B adaptor protein 3

Clinical features

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