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Hemophilia C

Plasma thromboplastin antecedent deficieny, PTA deficiency, Rosenthal syndrome, Haemophilia C

Overview

Hemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome, and Haemophilia C) is a mild form of hemophilia affecting both sexes. However, it predominantly occurs in Jews of Ashkenazi descent. It is the fourth most common coagulation disorder after von Willebrand's disease and hemophilia A and BIn the USA it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as hemophilia A.

Hemophilia C was first discovered in a young Ashkenazic Jewish American in the 1950s.

Symptoms - Hemophilia C

Unlike individuals with hemophilia A and B, patients affected by hemophilia C are not ones to bleed spontaneously. In these cases, hemorrhages tend to happen after a major surgery or injury. However, people affected with hemophilia C might experience symptoms closely related to those of other forms of hemophilia such as:

  • Bruising.
  • Nosebleeds.
  • Traces of blood in the urine.
  • Heavy menstrual bleeding in females.

Causes - Hemophilia C

It is caused by a deficiency of coagulation factor XI and is distinguished from hemophilia A and B by the fact it does not lead to bleeding into the joints. Furthermore, it has autosomal recessive inheritance, since the gene for factor XI is located on chromosome 4 (close to the prekallikrein gene); and it is not completely recessive, individuals who are heterozygous also show increased bleeding. Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency.

Prevention - Hemophilia C

The drug Cyklokapron is often used as a preventative measure to avoid excessive bleeding during oral surgery.

Diagnosis - Hemophilia C

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Prognosis - Hemophilia C

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Treatment - Hemophilia C

Treatment is usually not necessary, except in relation to operations, leading to many of those having the condition not being aware of it. In these cases, fresh frozen plasma or recombinant factor XI may be used, but only if necessary. The afflicted may often suffer nosebleeds, and females can experience heavy menstrual bleeding. Heavy menstrual bleeding can be avoided by taking birth control such as: IUDs and oral or injected contraceptives to increase coagulation ability by adjusting hormones to levels similar to pregnancy.

The drug Cyklokapron is often used for treatment after an incident of bleeding.

Resources - Hemophilia C

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