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Article

Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2007

Jayandharan G, Spreafico M, Viswabandya A, Chandy M, Srivastava A, Peyvandi F

Abstract excerpt

Combined FV and FVIII deficiency (F5F8D) is a rare (1:1.000.000) autosomal recessive disorder caused by a defect in the LMAN1 or MCFD2 genes, encoding for a FV and FVIII cargo receptor complex. We report the phenotype and genotype analyses in nine unrelated Indian patients with low FV and FVIII coagulant activity [FV:C, range: 5.6-22.4% and FVIII:C, range: 8.3-27.1%]. Four homozygous mutations, including two...

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Source

Identifiers

PMID: 17610559
DOI: 10.1111/j.1365-2516.2007.01477.x

Genes

MCFD2
LMAN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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