Haemophilia C
| Haemophilia C | |
|---|---|
 |
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| Haemophilia C caused by deficiency in Factor XI | |
| Classification and external resources | |
| Specialty | Haematology |
| ICD-10 | D68.1 |
| ICD-9-CM | 286.2 |
| OMIM | 264900 |
| DiseasesDB | 29376 |
| eMedicine | ped/964 med/3515 |
| MeSH | D005173 |
Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency. However, it predominantly occurs in Jewish people of Ashkenazi descent. It is the fourth most common coagulation disorder after von Willebrand's disease and haemophilia A and B. In the United States, it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as haemophilia A.
In terms of the signs/symptoms of hemophilia C, unlike individuals with Haemophilia A and B, people affected by it are not ones to bleed spontaneously. In these cases, haemorrhages tend to happen after a major surgery or injury. However, people affected with haemophilia C might experience symptoms closely related to those of other forms of haemophilia such as the following:
Hemophilia C is caused by a deficiency of coagulation factor XI and is distinguished from haemophilia 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 (near 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. Hemophilia C is developed on occasion in individuals with systemic lupus erythematosus, because of inhibitors to the FXI protein.
The diagnosis of hemophilia C (factor XI deficiency) is centered on prolonged activated partial thromboplastin time.One will find that the factor XI has decreased in the individuals body.In terms of differential diagnosis one must consider:factor VIII deficiency, lupus anticoagulant and heparin contamination.
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