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THPO gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

THPO gene

The THPO gene provides instructions for making thrombopoietin, a protein essential for the production of blood cells, particularly platelets.

Normal Function

The THPO gene provides instructions for making a protein called thrombopoietin that promotes the growth and division (proliferation) of cells. This protein attaches to (binds) and turns on (activates) the thrombopoietin receptor, which stimulates several signaling pathways that transmit chemical signals from outside the cell to the cell's nucleus. These pathways are important for controlling the production of blood cells.

Thrombopoietin is especially important for the proliferation of certain blood cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. Research suggests that thrombopoietin signaling may also play a role in the renewal of hematopoietic stem cells, which are stem cells located within the bone marrow that have the potential to develop into red blood cells, white blood cells, and platelets.

Health Conditions Related to Genetic Changes

Essential thrombocythemia

Several mutations in the THPO gene have been found in people with essential thrombocythemia, a condition characterized by an increased number of platelets in the blood. Because platelets are the blood cells involved in blood clotting, abnormal clotting (thrombosis) is common in people with essential thrombocythemia.

THPO gene mutations are found in families with an inherited form of the condition called familial essential thrombocythemia. These mutations affect a region of the gene that usually blocks (inhibits) the production of the thrombopoietin protein (a process called translation). THPO gene mutations lead to increased translation of the protein. The excess protein can abnormally activate the thrombopoietin receptor and the signaling pathways, leading to overproduction of megakaryocytes and increased numbers of platelets. Excess platelets can cause thrombosis, which leads to many signs and symptoms of essential thrombocythemia.

Other Names for This Gene

  • c-mpl ligand
  • megakaryocyte colony-stimulating factor
  • megakaryocyte growth and development factor
  • megakaryocyte stimulating factor
  • MGC163194
  • MGDF
  • MKCSF
  • ML
  • MPL ligand
  • MPLLG
  • myeloproliferative leukemia virus oncogene ligand
  • TPO
  • TPO_HUMAN

Frequently Asked Questions

In THPO‑related ET, platelet counts are often markedly elevated (often >600 × 10⁹/L) without the typical JAK2 or CALR mutations seen in sporadic ET. A bone‑marrow biopsy may show increased megakaryocytes with normal morphology. Molecular testing that identifies a THPO gain‑of‑function variant confirms the diagnosis. Absence of other driver mutations plus a family history strengthens the suspicion.
First‑line agents include low‑dose aspirin to reduce clot risk and cytoreductive drugs such as hydroxyurea or anagrelide to lower platelet numbers. In patients with THPO mutations, interferon‑α can be particularly useful because it may target the underlying signaling pathway. Therapy choice depends on age, cardiovascular risk, pregnancy plans, and tolerance of side effects; a hematologist will tailor the regimen.
If a close relative has confirmed essential thrombocythemia (ET) due to a THPO mutation, targeted genetic testing of the THPO gene can be offered. Testing is usually done on a blood sample and looks for known pathogenic variants. Results help determine inheritance risk, guide monitoring (e.g., regular platelet counts), and inform treatment decisions. Discuss testing with a hematologist or a genetic counselor, especially because a positive result may prompt earlier surveillance for thrombotic complications.
Pregnancy can amplify the thrombotic risk associated with high platelet counts. Women with THPO‑related ET are usually monitored closely with serial platelet counts and may continue low‑dose aspirin throughout pregnancy. Cytoreductive therapy (e.g., interferon‑α) is preferred over hydroxyurea because it is safer for the fetus. Delivery planning often involves a multidisciplinary team (hematology, obstetrics, anesthesia) to manage bleeding and clotting risks.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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