A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency.

doi:10.1002/ajh.20132

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Article

A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency.

American journal of hematology - 1 Sept 2004

Menegatti Marzia, Karimi Mehran, Garagiola Isabella, Mannucci PierMannuccio, Peyvandi Flora

Abstract excerpt

The combined presence in the homozygous state of more than one recessively transmitted coagulation defect may rarely occur in countries with a high rate of consanguinity. In an Iranian family consisting of two parents (second cousins) and two affected siblings, initial phenotypic analysis led to a diagnosis of mild FX deficiency (10-19% FX activity, 42-54% FX:Ag), and genotyping revealed a new homozygous missense...

Topics

Adult
Blood Coagulation Disorders
Factor VII Deficiency
Factor X Deficiency
Family Health
Female
Genotype
Homozygote
Humans
Iran
Male
Mutation, Missense

Source

Open in PubMed

Identifiers

PMID: 15307115
DOI: 10.1002/ajh.20132

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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