Mild hemophilia A

Orpha code: 169808OMIM code: 306700

Definicja

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
Klasyfikacja

Clinical subtype

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

No additional description.

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