Hereditary factor VIII deficiency disease
- Synonyms
- Factor 8 deficiency, congenital; Factor VIII deficiency, congenital; HEM A; Hemophilia A; Hemophilia A, congenital; Hemophilia, classic
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Barbara A Konkle
- Shelley Nakaya Fletcher
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (63 available)
Molecular Genetics Tests
- Deletion/duplication analysis (34)
- Microsatellite instability testing (MSI) (1)
- Targeted variant analysis (23)
- Mutation scanning of select exons (1)
- Sequence analysis of the entire coding region (43)
- Detection of homozygosity (2)
- Linkage analysis (3)
- Sequence analysis of select exons (2)
- Mutation scanning of the entire coding region (3)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Epistaxis
Epistaxis
- MedGen UID: 4996
- Concept ID: C0014591
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Gingival bleeding
Gingival bleeding
- MedGen UID: 42218
- Concept ID: C0017565
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Persistent bleeding after trauma
Persistent bleeding after trauma
- MedGen UID: 375403
- Concept ID: C1844374
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Prolonged partial thromboplastin time
Prolonged partial thromboplastin time
- MedGen UID: 66815
- Concept ID: C0240671
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Reduced factor VIII activity
Reduced factor VIII activity
- MedGen UID: 892907
- Concept ID: C4025649
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Epistaxis
- Abnormality of the cardiovascular system
- Joint hemorrhage
Joint hemorrhage
- MedGen UID: 5479
- Concept ID: C0018924
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Joint hemorrhage
- Abnormality of the digestive system
- Hematemesis
Hematemesis
- MedGen UID: 6770
- Concept ID: C0018926
- Finding: Sign or Symptom
Abnormality of the digestive system
- Melena
Melena
- MedGen UID: 7523
- Concept ID: C0025222
- Finding: Pathologic Function
Abnormality of the digestive system
- Hematemesis
- Abnormality of the integument
- Bruising susceptibility
Bruising susceptibility
- MedGen UID: 140849
- Concept ID: C0423798
- Finding: Finding
Abnormality of the integument
- Petechiae
Petechiae
- MedGen UID: 10680
- Concept ID: C0031256
- Finding: Disease or Syndrome
Abnormality of the integument
- Purpura
Purpura
- MedGen UID: 19584
- Concept ID: C0034150
- Finding: Disease or Syndrome
Abnormality of the integument
- Bruising susceptibility
- Abnormality of the musculoskeletal system
- Muscle hemorrhage
Muscle hemorrhage
- MedGen UID: 508806
- Concept ID: C0151702
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Osteoarthritis
Osteoarthritis
- MedGen UID: 45244
- Concept ID: C0029408
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Muscle hemorrhage
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