Asymptomatic factor VII deficiency in African Americans.
African Americans with factor VII (FVII) deficiency, as defined by clinical laboratory values, are frequently asymptomatic. To date the genotypes underlying this FVII defect in asymptomatic African Americans have not been established. We show in 3 unrelated African-American patients that the defect is due to a G to A nucleotide change resulting in an arginine to glutamine mutation in Factor VII amino acid 304. This defect results in low FVII coagulant activity levels using rabbit brain thromboplastin but not using human thromboplastin. This report may aid transfusion and hematology specialists evaluate patient results and prevent unnecessary transfusions to treat patients with abnormal laboratory values.
Pollak
Eleanor S
ES
Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, PA, USA.
Russell
Theresa T
TT
Ptashkin
Beverly
B
Smith-Whitley
Kim
K
Camire
Rodney M
RM
Bauer
Kenneth A
KA
D000293:Adolescent; D000328:Adult; D001741:Black or African American / Q000235:genetics*; D002648:Child; D005168:Factor VII Deficiency / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017720:Molecular Epidemiology; D020125:Mutation, Missense; D010414:Pennsylvania / Q000453:epidemiology; D017354:Point Mutation; D017422:Sequence Analysis, DNA