About hageman factor deficiency

What is hageman factor deficiency?

Factor XII deficiency is a rare genetic blood disorder that causes prolonged clotting (coagulation) of blood in a test tube without the presence of prolonged clinical bleeding tendencies. It is caused by a deficiency of the factor XII (Hageman factor), a plasma protein (glycoprotein). Specifically, factor XII is a clotting factor. Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood clumps together to plug the site of a wound to stop bleeding. Although it is thought that factor XII is needed for proper blood clotting, when it is deficient, other blood clotting factors appear to compensate for its absence. Therefore, the disorder is thought to be benign and usually presents no symptoms (asymptomatic); it is usually only accidentally discovered through pre-operative blood tests that are required by hospitals.

What are the symptoms for hageman factor deficiency?

Factor XII deficiency is rarely associated with any symptoms (asymptomatic). However, when blood from a patient is subjected to a partial thromboplastin time test (PTT), a test measuring clotting time, it takes an abnormally long time for the blood to clot. Serum prothrombin (PT) time, another test of blood clotting, is also abnormally long. The blood level of factor XII tends to vary greatly.

According to some older medical reports, factor XII deficiency may predispose affected individuals to developing blood clots (thrombi) at an early age. For example, individuals may have a greater risk than the general population in developing deep vein thrombosis or acquired thrombotic disorders. However, such an association remains unproven.

Researchers are now studying drugs to block (inhibit) factor XII as a potential therapy for individuals who are prone to developing blood clots. More research is necessary to determine the exact role that factor XII plays in the development or prevention of blood clots and its overall functions in the body.

There are also reports in the medical literature that suggest an association between factor XII deficiency and repeated unexplained miscarriages in some affected women. However, such an association remains controversial and unproven.

What are the causes for hageman factor deficiency?

Factor XII deficiency is inherited as an autosomal recessive disorder. Genetic diseases are determined by two genes, one received from the father and one from the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

Investigators have determined that factor XII deficiency occurs due to mutations of the F12 gene located on the long arm of chromosome 5 (5q33-qter). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 5q33” refers to band 33 on the long arm of chromosome 5. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

The F12 gene creates (encodes) factor XII, which is a clotting factor. Mutations of the F12 gene lead to low levels of functional factor XII in the blood (potentially less than 1%). The exact role that factor XII plays in the clotting process and any additional effects it has on the body are not fully understood. In addition to the clotting process, factor XII is believed to play a role tissue repair and the formation of blood vessels (angiogenesis).

What are the treatments for hageman factor deficiency?

Treatment

Treatment for this disorder is usually not necessary since bleeding abnormalities only mild or nonexistent.

What are the risk factors for hageman factor deficiency?

Factor XII deficit is characterised by a lack of or lowered level of the substance (Hageman factor).

  • The fibrinolytic, kallikrein-kinin, and complement systems are connected to factor XII, which also starts the intrinsic coagulation cascade.
  • It encourages factor XI to transform into its active form. In the absence of a patient or family history of hemorrhagic diseases, factor XII deficiency is often characterised by a prolonged clotting time.
  • Although autosomal dominant inheritance has occasionally been noted, the autosomal recessive nature of Hageman factor deficiency is more common.
  • complications than bleeding issues, which are known to induce complications with bleeding.
  • A risk factor for the development of thromboembolism is factor XII (Hageman factor) deficiency.
  • Patients who have experienced myocardial infarction, recurrent venous or arterial thromboembolism, and factor XII deficiency. An Isolated prolonged aPTT in a patient with thromboembolic event is a rare indicator of life-threatening consequences, such in our patient, and points to factor XII deficiency.
  • Before conclusively linking other potential causes under the clinical circumstances (provocating and non-provocating) to inherited coagulopathy, they must first be ruled out due to the rarity of factor XII deficiency and the variability in its clinical presentations.
  • Avoiding consanguineous marriages could stop the transmission of autosomal recessive illnesses, which endanger pregnancy and call for counselling and education.

Symtpoms
Factor XII deficiency is rarely associated with any symptoms (asymptomatic).
Conditions
Extended blood clotting (coagulation) in a test tube but not persistent clinical bleeding tendencies,A lack of the plasma protein factor XII (Hageman factor) is what causes it (glycoprotein)
Drugs
NA

Is there a cure/medications for hageman factor deficiency?

A protein (factor XII) hageman factor deficiency involved in blood clotting is affected by factor XII deficiency, a hereditary condition.

•When you bleed, your body goes through a sequence of processes that aid in the formation of blood clots. Coagulation cascade is the name of this process. Coagulation, or clotting, factors, which are unique proteins, are involved.

•If one or more of these components are absent or are not working properly, you may have a higher likelihood of experiencing excessive bleeding. It encourages factor XI to transform into its active form.

A protein (factor XII) involved in blood clotting is affected by factor XII deficiency, a hereditary condition.

  • When you bleed, your body goes through a sequence of processes that aid in the formation of blood clots. Coagulation cascade is the name of this process. Coagulation, or clotting, factors, which are unique proteins, are involved.
  • If one or more of these components are absent or are not working properly, you may have a higher likelihood of experiencing excessive bleeding. It encourages factor XI to transform into its active form.
  • When you bleed, your body goes through a sequence of processes that aid in the formation of blood clots. Coagulation cascade is the name of this process. Coagulation, or clotting, factors, which are unique proteins, are involved.
  • If one or more of these components are absent or are not working properly, you may have a higher likelihood of experiencing excessive bleeding. It encourages factor XI to transform into its active form.
    In the absence of a patient or family history of hemorrhagic diseases, factor XII deficiency is often characterized by a prolonged clotting time.
  • One such component is factor, XII. You do not bleed abnormally when this component is absent. But in a test tube, the blood clots more slowly than usual. Deficiency in factor XII is an uncommon hereditary condition.
  • This condition is hereditary. There is currently no known way to stop it. Typically, no treatment is required.
  • The lack of protein affects how rare factor shortages are handled. Some can be treated with clotting factor concentrates that fill in the gaps. Others are treated with antifibrinolytics, which slow the dissolution of blood clots, or fresh frozen plasma, which is the liquid component of whole blood.In the absence of a patient or family history of hemorrhagic diseases, factor XII deficiency is often characterized by a prolonged clotting time.
  • One such component is factor, XII. You do not bleed abnormally when this component is absent. But in a test tube, the blood clots more slowly than usual. Deficiency in factor XII is an uncommon hereditary condition.
  • This condition is hereditary. There is currently no known way to stop it. Typically, no treatment is required.
  • The lack of protein affects how rare factor shortages are handled. Some can be treated with clotting factor concentrates that fill in the gaps. Others are treated with antifibrinolytics, which slow the dissolution of blood clots, or fresh frozen plasma, which is the liquid component of whole blood.
Symtpoms
Factor XII deficiency is rarely associated with any symptoms (asymptomatic).
Conditions
Extended blood clotting (coagulation) in a test tube but not persistent clinical bleeding tendencies,A lack of the plasma protein factor XII (Hageman factor) is what causes it (glycoprotein)
Drugs
NA

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