Hemophilia C

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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.

Classification

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.

Causes

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.

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

Diagnosis

Diagnostic Criteria

History and 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

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

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.

Surgery

Prevention

References

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