Homepage > Rare diseases > Search

Search for a rare disease

*
(*) mandatory field

Bleeding disorder in hemophilia A carriers

Suggest an update
Your message has been sent Your message has not been sent. Please contact an administrator.
Disease definition

A rare bleeding disorder in association with carrier mutations in the F8 gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.

ORPHA:177926

Classification level: Subtype of disorder

Prevalence: Unknown

Inheritance: X-linked recessive

Age of onset: All ages

ICD-10: D66

ICD-11: 3B10.0

OMIM: 306700

UMLS: C5680504

A summary on this disease is available in Français, Español, Deutsch, Italiano, Português, Nederlands, Polski
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Svenska (2023) - Socialstyrelsen
Guidelines
Emergency guidelines
Français (2022.pdf) - Orphanet Urgences
Deutsch (2009.pdf) - Orphanet Urgences
Italiano (2009.pdf) - Orphanet Urgences
Anesthesia guidelines
English (2018) - Orphananesthesia
Español (2018) - Orphananesthesia
Čeština (2018) - Orphananesthesia
Clinical practice guidelines
English (2020) - Haemophilia
Español (2012.pdf) - World Federation of Hemophilia
Русский (2012.pdf) - World Federation of Hemophilia
中文 (2012.pdf) - World Federation of Hemophilia
العربية (2012.pdf) - World Federation of Hemophilia
Disease review articles
Review article
English (2025) - Lancet
Clinical genetics review
English (2025) - GeneReviews
Genetic testing
Guidance for genetic testing
English (2011) - Eur J Hum Genet
The documents contained in this website 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.