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Symptomatic form of hemophilia A in female carriers

MedGen UID:
1843218
Concept ID:
C5680504
Disease or Syndrome
Synonyms: Bleeding disorder in hemophilia A carriers; symptomatic form of hemophilia A in female carriers
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0015787
Orphanet: ORPHA177926

Definition

A rare bleeding disorder in association with carrier mutations in the <i>F8</i> gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII &#8805;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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSymptomatic form of hemophilia A in female carriers

Recent clinical studies

Etiology

d'Oiron R, O'Brien S, James AH
Haemophilia 2021 Feb;27 Suppl 3:75-81. Epub 2020 Sep 28 doi: 10.1111/hae.14094. PMID: 32985086

Diagnosis

d'Oiron R, O'Brien S, James AH
Haemophilia 2021 Feb;27 Suppl 3:75-81. Epub 2020 Sep 28 doi: 10.1111/hae.14094. PMID: 32985086
Dvilansky A, Nathan I, Eldor A
Blut 1979 Jan 22;38(1):47-50. doi: 10.1007/BF01082927. PMID: 758961

Clinical prediction guides

d'Oiron R, O'Brien S, James AH
Haemophilia 2021 Feb;27 Suppl 3:75-81. Epub 2020 Sep 28 doi: 10.1111/hae.14094. PMID: 32985086

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