Hemophilia C
| Hemophilia C | |
| ICD-10 | D68.1 |
|---|---|
| ICD-9 | 286.2 |
| OMIM | 264900 |
| DiseasesDB | 29376 |
| MeSH | D005173 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Haemophilia type C; haemophilia C; hereditary factor XI deficiency
Overview
Hemophilia C is a mild form of haemophilia 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 haemophilia A and B.
Historical Perspective
Hemophaelia C was first discovered in a young Ashkenazic Jewish American in the 1950s.
Pathophysiology
It is caused by a deficiency of coagulation factor XI.
Genetics
It has autosomal recessive inheritance. The gene for factor XI is located on chromosome 4 (close to the prekallikrein gene). Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency.
Differentiating Hemophilia C from other Diseases
It is distinguished from haemophilia A and B by the fact it does not lead to bleeding into the joints.
Diagnosis
Symptoms
The symptoms of Haemophilia C are the same as those for other forms of Haemophilia, mainly:
- Prolonged bleeding from injuries.
- Frequent or heavy nosebleeds.
- Traces of blood in the urine.
- Females can experience heavy menstrual bleeding
Medical Therapy
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.