Mild hemophilia A

Orpha code: 169808OMIM code: 306700

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
Mild congenital F8 deficiency
Łagodny Niedobór czynnika VIII
Mild congenital factor VIII deficiency
ORPHA code
169808
OMIM code
306700
ICD10 code
D66
ICD11 code
3B10.0

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl