Meyahealth
HomeGeneticsConditionProthrombin deficiency
Back to Condition
Prothrombin deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Prothrombin deficiency

Prothrombin deficiency is an extremely rare bleeding disorder caused by mutations in the F2 gene, resulting in impaired clot formation and a heightened risk of severe bleeding.

Overview

Prothrombin deficiency is a bleeding disorder that slows the . People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Women with prothrombin deficiency can have prolonged and sometimes abnormally heavy menstrual bleeding. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and the condition may only become apparent following surgery or a serious injury.

Frequency

Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 million people in the general population.

Causes

Mutations in the F2 gene cause prothrombin deficiency. The F2 gene provides instructions for making the prothrombin protein (also called coagulation factor II), which plays a critical role in the in response to injury. Prothrombin is the precursor to thrombin, a protein that initiates a series of chemical reactions to form a blood clot. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss.

F2 gene mutations reduce the production of prothrombin in cells, which prevents clots from forming properly in response to injury. Problems with blood clotting can lead to excessive bleeding. Some mutations drastically reduce the activity of prothrombin and can lead to severe bleeding episodes. Other F2 gene mutations allow for a moderate amount of prothrombin activity, typically resulting in mild bleeding episodes.

Learn more about the gene associated with Prothrombin deficiency

  • F2

Inheritance

This condition is inherited in an autosomal recessive, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • Dysprothrombinemia
  • Factor II deficiency
  • Hypoprothrombinemia

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: Congenital prothrombin deficiency

Genetic and Rare Diseases Information Center

  • Congenital factor II deficiency

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Clinical Trials

  • ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

  • PROTHROMBIN DEFICIENCY, CONGENITAL

Scientific Articles on PubMed

  • PubMed

References

  • Akhavan S, Mannucci PM, Lak M, Mancuso G, Mazzucconi MG, Rocino A, Jenkins PV, Perkins SJ. Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. Thromb Haemost. 2000 Dec;84(6):989-97. Citation on PubMed
  • Jayandharan G, Viswabandya A, Baidya S, Nair SC, Shaji RV, Chandy M, Srivastava A. Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 → Thr (Prothrombin Vellore 1) mutation. J Thromb Haemost. 2005 Jul;3(7):1446-53. doi:10.1111/j.1538-7836.2005.01402.x. Citation on PubMed
  • Lefkowitz JB, Weller A, Nuss R, Santiago-Borrero PJ, Brown DL, Ortiz IR. A common mutation, Arg457→Gln, links prothrombin deficiencies in the Puerto Rican population. J Thromb Haemost. 2003 Nov;1(11):2381-8. doi:10.1046/j.1538-7836.2003.00420.x. Citation on PubMed
  • Wong AY, Hewitt J, Clarke BJ, Hudson DM, Krisinger MJ, Dower NA, MacGillivray RT. Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. J Thromb Haemost. 2006 Dec;4(12):2623-8. doi: 10.1111/j.1538-7836.2006.02235.x. Epub 2006 Sep 26. Citation on PubMed

Medical Encyclopedia

  • Genetics
  • Prothrombin deficiency

Understanding Genetics

  • What is the prognosis of a genetic condition?
  • How can gene variants affect health and development?
  • What does it mean if a disorder seems to run in my family?
  • What are the different ways a genetic condition can be inherited?
  • How are genetic conditions treated or managed?

Frequently Asked Questions

Look for unusually prolonged bleeding after cuts, dental work, or surgery, heavy menstrual bleeding, or spontaneous bruising that doesn’t resolve quickly. If you or a family member has a history of severe bleeding, a coagulation panel including prothrombin time (PT) and factor II activity can confirm the diagnosis.
Patients typically receive a prothrombin complex concentrate (PCC) or fresh frozen plasma to raise clotting factor levels before the procedure. The goal is to bring factor II activity to at least 50 % of normal. Your surgeon and anesthesiologist should coordinate with your hematologist to plan dosing and monitor for bleeding.
Non‑steroidal anti‑inflammatory drugs (NSAIDs) like ibuprofen or aspirin can increase bleeding risk. Acetaminophen is generally safer, but always consult your clinician before starting any medication. If you need pain relief, your doctor may prescribe a lower‑dose NSAID with a protective agent such as a proton pump inhibitor.
Mild cases (factor II activity 30‑50 %) usually only bleed after significant trauma or surgery and can lead a normal life with routine precautions. Severe cases (activity <30 %) carry a higher risk of spontaneous bleeding and may require regular factor replacement or prophylactic treatment, especially during pregnancy or major surgery. Regular follow‑up with a hematologist helps manage risk and adjust therapy.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ