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

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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)90-91
Number of pages2
JournalAmerican Journal of Hematology
Volume77
Issue number1
DOIs
Publication statusPublished - Sep 2004

Keywords

  • Factor VII deficiency
  • Factor X deficiency
  • Mutational analysis
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Hematology

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