GTR Home > Conditions/Phenotypes > Hereditary factor I deficiency disease

Summary

Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord after birth. Nosebleeds (epistaxis), bleeding from the gums or tongue, and bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma) are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, affected women may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages. [from GHR]

Available tests

38 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

Help
  • Gingival bleeding
  • Epistaxis
  • Abnormality of the menstrual cycle
  • Joint swelling
  • Intracranial hemorrhage
  • Gastrointestinal hemorrhage
  • Thrombophlebitis
  • Spontaneous abortion
  • Hypofibrinogenemia
  • Splenic rupture
Show all (10)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk