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

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

doi:10.1002/ajh.20132

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

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

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 mutation in the corresponding gene (Ser3Cys). As both of the sibs had a severe bleeding history that was not compatible with mild deficiency of FX, further phenotypic analysis revealed the additional presence of severe FVII deficiency (

Original language	English
Pages (from-to)	90-91
Number of pages	2
Journal	American Journal of Hematology
Volume	77
Issue number	1
DOIs	https://doi.org/10.1002/ajh.20132
Publication status	Published - Sep 2004

Keywords

Factor VII deficiency
Factor X deficiency
Mutational analysis
Prenatal diagnosis

ASJC Scopus subject areas

Hematology

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abstract = "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 mutation in the corresponding gene (Ser3Cys). As both of the sibs had a severe bleeding history that was not compatible with mild deficiency of FX, further phenotypic analysis revealed the additional presence of severe FVII deficiency (",

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AU - Menegatti, Marzia

AU - Karimi, Mehran

AU - Garagiola, Isabella

AU - Mannucci, PierMannuccio

AU - Peyvandi, Flora

PY - 2004/9

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AB - 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 mutation in the corresponding gene (Ser3Cys). As both of the sibs had a severe bleeding history that was not compatible with mild deficiency of FX, further phenotypic analysis revealed the additional presence of severe FVII deficiency (

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KW - Factor X deficiency

KW - Mutational analysis

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