Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. 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.
Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 million people in the general population.
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 formation of blood clots 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 mutations reduce the amount 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 mutations allow for a moderate amount of prothrombin activity, typically causing mild bleeding episodes.
Read more about the F2 gene.
This condition is inherited in an autosomal recessive pattern, 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.
These resources address the management of prothrombin deficiency and may include treatment providers.
You might also find information on treatment of prothrombin deficiency in
Educational resources and Patient support.
You may find the following resources about prothrombin deficiency helpful. These materials are written for the general public.
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- Patient support - For patients and families
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
- PubMed - Recent literature
- Online Books - Medical and science texts
- OMIM - Genetic disorder catalog
- dysprothrombinemia
- Factor II Deficiency
- Hypoprothrombinemia
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.