Learn About Prothrombin Deficiency

What is the definition of Prothrombin Deficiency?

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.

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What are the causes of Prothrombin Deficiency?

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 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.

How prevalent is Prothrombin Deficiency?

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

Is Prothrombin Deficiency an inherited disorder?

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.

Who are the top Prothrombin Deficiency Local Doctors?
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University Of Padua

Padova, IT 

Antonio Girolami is in Padova, Italy. Girolami is rated as an Elite expert by MediFind in the treatment of Prothrombin Deficiency. He is also highly rated in 20 other conditions, according to our data. His top areas of expertise are Factor 7 Deficiency, Prekallikrein Deficiency, Factor 10 Deficiency, and Prothrombin Deficiency.

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Highly rated in
8
conditions

Nara Medical University

Nara, JP 

Keiji Nogami is in Nara, Japan. Nogami is rated as an Elite expert by MediFind in the treatment of Prothrombin Deficiency. He is also highly rated in 8 other conditions, according to our data. His top areas of expertise are Blood Clots, Hemophilia A, Prothrombin Deficiency, and Von Willebrand Disease.

 
 
 
 
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Elite
Highly rated in
13
conditions

The First Affiliated Hospital Of Wenzhou Medical University

Wenzhou, CN 

Yanhui Jin is in Wenzhou, China. Jin is rated as an Elite expert by MediFind in the treatment of Prothrombin Deficiency. They are also highly rated in 13 other conditions, according to our data. Their top areas of expertise are Factor 7 Deficiency, Prothrombin Deficiency, Factor 10 Deficiency, and Factor 12 Deficiency.

What are the latest Prothrombin Deficiency Clinical Trials?
REPlaCE- Randomized Trial Evaluating the Use of Prothrombin Complex concEntrate to Improve Survival in Patients With Traumatic Coagulopathy
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Impact of Early Administration of Prothrombin Concentrate Complex in Patients With Acute Hemorrhage Following Severe Trauma
What are the Latest Advances for Prothrombin Deficiency?
Cerebral venous sinus thrombosis: a complication of nitrous oxide abuse.
Conservative therapy for spinal epidural hematoma in a child with hemophilia A with high-titer VIII inhibitors.
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Successful treatment by switching from activated prothrombin complex concentrate to emicizumab therapy in a hemophilia A patient with inhibitors.