Orphanet: Severe hemophilia A

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Severe hemophilia A

Disease definition

A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.

ORPHA:169802

Classification level: Subtype of disorder

Synonym(s):
- Severe congenital F8 deficiency
- Severe congenital factor VIII deficiency
Prevalence: 1-9 / 100 000
Inheritance: X-linked recessive
Age of onset: Infancy, Neonatal
ICD-10: D66
ICD-11: 3B10.0
OMIM: 306700
UMLS: C0272322
MeSH: -
GARD: -
MedDRA: -

A summary on this disease is available in Español (2022) Français (2022) Nederlands (2022) Português (2022) Deutsch (2009) Italiano (2009) Polski ()

Detailed information

General public

Article for general public
Français (2006, pdf) - Orphanet
Svenska (2023) - Socialstyrelsen

Guidelines

Emergency guidelines
Italiano (2009, pdf) - Orphanet Urgences
Français (2022, pdf) - Orphanet Urgences

Clinical practice guidelines
Arabic (2012, pdf) - World Federation of Hemophilia
Español (2012, pdf) - World Federation of Hemophilia
Français (2012) - WFH
Russian (2012, pdf) - World Federation of Hemophilia
Chinese (2012, pdf) - World Federation of Hemophilia
English (2020) - Haemophilia
Français (2022) - PNDS
Français (2023) - PNDS

Anesthesia guidelines
Czech (2016) - Orphananesthesia
English (2016) - Orphananesthesia
Español (2016) - Orphananesthesia

Disease review articles

Clinical genetics review
English (2023) - GeneReviews

Clinical Outcome Assessment (COA)

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Genetic Testing

Guidance for genetic testing
English (2011) - Eur J Hum Genet
Français (2015, pdf) - ANPGM

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

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.