Medical

congenital afibrinogenaemia

A rare autosomal recessive disorder (OMIM:202400) characterised by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen.

Molecular pathology
Defects in FGG on chromosome 4q28, which encodes the gamma chain of fibrinogen, cause congenital afibrinogenaemia.

References in periodicals archive

Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review.

A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment

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