Journal of Hematology, ISSN 1927-1212 print, 1927-1220 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Hematol and Elmer Press Inc
Journal website https://www.thejh.org

Case Report

Volume 11, Number 1, February 2022, pages 29-33


Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)

Figure

Figure 1.
Figure 1. Variants detected on the F7 gene. Fwd: forward; Rev: reverse

Table

Table 1. Three Different Thromboplastin Reagents to Measure F7 Activity Levels
 
Rabbit brain thromboplastin (Neoplastine CI Plus, Stago Diagnostica)Recombinant human tissue factor thromboplastin (Dade Innovin, Siemens)Human placental thromboplastin (Thromborel S, Siemens)F7 antigen (VisuLize F7 antigen - Affinity Biologicals)
FVII: factor VII; PT: prothrombin time.
PT (s)
  Patient27.91418.4
  Reference range11.7 - 14.09.9 - 11.810.4 - 12.6
50% correction (s)
  Patient14.99.813.5
  Control13.79.212.3
FVII activity (%)
  Patient4%28%21%
  Reference range (FVII)55-170%70-120%70-120%
FVII antigen
  Patient87%
  Reference range (FVII antigen)71-146%