Worldwide diffusion of FVII Arg304Gln coagulation defect (FVII Padua).
FVII Padua is a Type 2 defect owing to an Arg304Gln substitution in exon 8. The defect was originally discovered in an isolated valley in northeastern Italy. Subsequently, it was described in several other countries of the Mediterranean basin and Middle East. Recently, several proven or suspected cases have been described among Afro-Americans in the USA. This study has demonstrated the existence of at least a two-founder effect for this FVII abnormality, Mediterranean countries, and USA Afro-Americans. Patients are usually asymptomatic or only paucisymptomatic. The defect is characterized by low FVII activity when rabbit brain thromboplastins are used in the assay system. On the contrary, FVII levels are normal when ox-brain thromboplastins are used. FVII antigen is always normal.
Department of Medical and Surgical Sciences, University of Padua, Via Ospedale 105, Padua, Italy. antonio.girolami@unipd.it
Antonio
A
Girolami
Giulia
G
Berti de Marinis
Emanuela
E
Bonamigo
Emanuele
E
Allemand
D000818:Animals; D001120:Arginine / Q000235:genetics*; D001778:Blood Coagulation Disorders / Q000175:diagnosis* / Q000453:epidemiology*; D002417:Cattle; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000175:diagnosis* / Q000453:epidemiology*; D005260:Female; D014943:Global Health; D005973:Glutamine / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010920:Placenta / Q000378:metabolism; D011247:Pregnancy; D011817:Rabbits
C080432:Factor VII Padua; D005973:Glutamine; D005167:Factor VII; D001120:Arginine