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Mild hemophilia A
Disease definition
Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
ORPHA:169808
Classification level: Subtype of disorder- Synonym(s):
- Mild factor VIII deficiency
- Prevalence: -
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: D66
- OMIM: 306700
- UMLS: C0272324
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Mild hemophilia A accounts for around 40% of all cases of hemophilia A.
Clinical description
The biological activity of factor VIII is between 5 and 40%. Spontaneous hemorrhages do not occur.
Etiology
The disorder is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII.
Genetic counseling
Transmission is X-linked recessive.
Detailed information
Article for general public
Professionals
- Emergency guidelines
- Italiano (2009, pdf)
- Français (2009, pdf)
- Anesthesia guidelines
- Czech (2018, pdf)
- English (2018, pdf)
- Español (2016, pdf)
- Clinical practice guidelines
- English (2020)
- Chinese (2012, pdf)
- Russian (2012, pdf)
- Español (2012, pdf)
- Arabic (2012, pdf)
- Français (2012)
- Guidance for genetic testing
- Français (2015, pdf)
- English (2011)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.