TY - JOUR
T1 - A rare inherited coagulation disorder
T2 - Combined homozygous factor VII and factor X deficiency
AU - Menegatti, Marzia
AU - Karimi, Mehran
AU - Garagiola, Isabella
AU - Mannucci, PierMannuccio
AU - Peyvandi, Flora
PY - 2004/9
Y1 - 2004/9
N2 - 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 (
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 (
KW - Factor VII deficiency
KW - Factor X deficiency
KW - Mutational analysis
KW - Prenatal diagnosis
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U2 - 10.1002/ajh.20132
DO - 10.1002/ajh.20132
M3 - Article
C2 - 15307115
AN - SCOPUS:4243150705
VL - 77
SP - 90
EP - 91
JO - American Journal of Hematology
JF - American Journal of Hematology
SN - 0361-8609
IS - 1
ER -