Prothrombin Deficiency

Watchlist
Retrieved
2022-04-26
Source
Trials
Genes
F2, F10
Drugs

Prothrombin (or factor II) deficiency is a blood disorder that affects the ability of the blood to clot properly. Symptoms of the deficiency include prolonged bleeding, especially after an injury or after surgery. Women with prothrombin deficiency may have heavy menstrual bleeding. The severity of the disease can vary, with some people experiencing severe bleeding without any known cause, and others only experiencing increased bleeding after a surgery or serious injury. 

Prothrombin deficiency is caused by changes (mutations) in the F2 gene. There are two types of inherited prothrombin deficiency. Type I or hypoprothrombinemia and  type II or dysprothrombinemia. Inheritance of both types is autosomal recessive. Diagnosis is based on laboratory test results that are consistent with the deficiency. Treatment includes IV therapy using plasma, which is the part of the blood that contains the blood clotting factors. The blood product that is used is called fresh frozen plasma. A form of the disease that is not inherited (acquired) can be caused by vitamin K deficiency, liver disease, or an autoimmune response. The underlying cause of acquired factor II deficiency should be treated in order to relieve symptoms of the disease.