Afibrinogenemia

Summary: Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or coagulation factor I), which is needed for ...1

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Symptoms of Afibrinogenemia

Symptoms: In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding abnormalities range from mild to severe. Bleeding from the umbilical cord just after birth frequently provides an early alert to the abnormality. Other symptoms include the following ...2

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Causes of Afibrinogenemia

Cause: Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process.[1, 2][3] This defect in fibrinogen synthesis can result from mutations in ...3

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Types of Afibrinogenemia

Some types of this condition may include:4 Types of Afibrinogenemia:

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Genetics of Afibrinogenemia

Inheritance: Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent.[1, 2][3, 5] The parents of an individual with an autosomal recessive condition ...5

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Treatments: Afibrinogenemia

Treatment: There is no known prevention or cure for afibrinogenemia.[1] To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive:[1, 3]

  • The liquid portion of the blood (plasma)
  • Fibrinogen (RaiSTAP)
  • A blood ...
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Names and Terminology

Other Names: Afibrinogenemia congenital; Congenital afibrinogenemia ...Source: GARD (NIH)6 ...

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5761/ afibrinogenemia
  2. ibid.
  3. ibid.
  4. Source: NCI Thesaurus
  5. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5761/ afibrinogenemia
  6. ibid.

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