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Article

[Genetic study of congenital afibrinogenemia. Review of 12 cases].

Annales de pediatrie - 1 Sept 1991

Khaldi F, Toumi N H, Bouguerra F, Boudiche A, Hafsia A, Khrouf N, Bennaceur B

Abstract excerpt

Twelve cases of congenital afibrinogenemia in 11 families are reported. A family study was performed in six cases. The parents were genetically related in 8 of the 11 families. In half the cases another sibling had the disease. In every case the direct ascendants were unaffected. On the basis of results of plasma fibrinogen assays, "unprotected" heterozygotes with no more than 2.5 g/l fibrinogen and "protected"...

Topics

Afibrinogenemia
Consanguinity
Female
Fibrinogen
Genes, Recessive
Genetic Carrier Screening
Genetic Counseling
Genetic Testing
Genetic Variation
Humans
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Phenotype

Source

Identifiers

PMID: 1952703

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1952703-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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