How common is factor II mutation?
How common is factor II mutation?
The mutation is uncommon in African Americans (approximately 0.5%) and is rare in Asians, Africans, and Native Americans. The homozygous form is considered uncommon, with an expected occurrence of approximately 1 in 10 000 individuals. The prothrombin 20210 mutation is equally as common in men and in women.
What are the two most common factor deficiencies?
Factor II deficiency is estimated to occur in 1 out of every 2 million people. Factor V deficiency is estimated to occur in 1 out of every 2 million people. Factor VII deficiency is estimated to occur in 1 out of every 300,000-500,000 people. That makes it the most common of the rare factor deficiencies.
How is prothrombin deficiency diagnosed?
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.
What Is factor II DNA analysis?
This test detects the factor II G20210A mutation and will help identify those individuals who carry this mutation and who are at increased risk of thrombosis; however, increased risk of thrombosis can be caused by a variety of genetic and nongenetic factors not screened for by this assay.
How is factor 2 treated?
Treatment for bleeding episodes may include infusions of prothrombin complex, a mixture of factor II (prothrombin) and other clotting factors, to boost your clotting ability. Infusions of fresh frozen plasma (FFP) have been used in the past. They are less common today, thanks to lower-risk alternatives.
Is Factor 2 dominant or recessive?
Factor II deficiency is inherited in an autosomal recessive fashion, meaning that both parents must carry the gene to pass it on to their children; it affects men and women equally.
What are the 2 deficient factors in hemophilia?
Hemophilia A, B & C: The Three Different Clotting Factor Deficiencies. The two most common types of hemophilia are factor VIII deficiency (hemophilia A) and factor IX deficiency (hemophilia B, or Christmas disease).
Which clotting factor is absent?
Deficiencies of factor VIII and factor IX are known as hemophilia A and B, respectively. Rare clotting factor deficiencies are bleeding disorders in which one or more of the other clotting factors (i.e. factors I, II, V, V+VIII,VII, X, XI, or XIII) is missing or not working properly.
What is factor 2 blood disorder?
Clotting factor II, or prothrombin, is a vitamin K–dependent proenzyme that functions in the blood coagulation cascade. Factor II deficiency is a rare, inherited or acquired bleeding disorder with an estimated incidence of one case per 2 million population.
What causes prothrombin deficiency?
Prothrombin deficiency is a disorder caused by a lack of a protein in the blood called prothrombin….It can be caused by:
- Lack of vitamin K (some babies are born with vitamin K deficiency)
- Severe liver disease.
- Use of medicines that prevent clotting (anticoagulants such as warfarin)
What Is Factor II activity?
The factor II assay is a blood test to measure the activity of factor II. Factor II is also known as prothrombin. This is one of the proteins in the body that helps the blood clot.
What causes factor II deficiency?
Acquired factor II deficiency can be caused by severe liver disease, vitamin K deficiency, anticoagulant drugs (eg, warfarin), or the presence of an antibody directed against the protein. Aside from the prothrombin deficiencies, another disorder of prothrombin is the prothrombin 20210a mutation.
How many people are affected by factor II deficiency?
Factor II deficiency is a rare, inherited or acquired bleeding disorder with an estimated incidence of one case per 2 million population. [ 1] Accordingly, they usually have either little normal prothrombin or a near-normal output of dysfunctional prothrombin.
What happens if you have congenital factor II deficiency?
Congenital factor II deficiency is a lifelong bleeding disorder. Death can result because of massive hemorrhage from relatively minor accidents or trauma. Hemorrhage can also occur as a result of surgery if precautions are not taken. Intracranial bleeding is another serious sequela of this disorder.
How is prothrombin activated in factor 2 deficiency?
To understand factor II deficiency, it helps to understand the role of factor II (prothrombin) and its activated version, factor IIa (thrombin), in normal blood clotting. Normal blood clotting occurs in four stages, described below. When you have a wound or surgery, your blood vessels are broken.
How many people are affected by prothrombin deficiency?
Clotting factor II, or prothrombin, is a vitamin K–dependent proenzyme that functions in the blood coagulation cascade. Factor II deficiency is a rare, inherited or acquired bleeding disorder with an estimated incidence of one case per 2 million population. [ 1]