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Article

Compound Heterozygous Mutations in FGA Cause Congenital Afibrinogenemia: A Case Report and Literature Review.

Birth defects research - 1 Sept 2026

Liu Liangliang, Yuan Desheng, Zhao Huaxing, Yu Bacui

Abstract excerpt

BACKGROUND: Congenital afibrinogenemia is an extremely rare autosomal recessive bleeding disorder with an estimated incidence of one in one million, caused by mutations in the fibrinogen-encoding genes. METHODS: We report a genetically confirmed case of FGA-related congenital afibrinogenemia in a 9-year-old female child. Comprehensive coagulation analysis revealed undetectable fibrinogen activity (FIB:C,...

Read the complete abstract on PubMed

Topics

Humans
Female
Afibrinogenemia
Heterozygote
Child
Fibrinogen
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Exons

Pedigree

Source

Identifiers

PMID: 42757861
DOI: 10.1002/bdr2.70109

Genes

FGA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

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