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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

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Associated genes

Clinical features

  • Gingival bleeding
  • Epistaxis
  • Abnormality of the menstrual cycle
  • Joint swelling
  • Intracranial hemorrhage
  • Gastrointestinal hemorrhage
  • Thrombophlebitis
  • Spontaneous abortion
  • Hypofibrinogenemia
  • Splenic rupture
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