Hemofili A, mild grad
Engelsk navn: Mild hemophilia A
Engelske synonym: Mild congenital F8 deficiency,Mild congenital factor VIII deficiency
Definisjon
A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.
Fra Orphanet
ORPHA: 169808
Klassifiseringsnivå: Subtype of disorder
ICD-10: D66