Description
Haemophilia A is an X-linked, recessive, bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. Affected individuals develop a variable phenotype of haemorrhage into joints and muscles, easy bruising, and prolonged bleeding from wounds. The disorder is caused by heterogeneous mutations in the factor VIII gene. Up to 30% of haemophilia A patients given therapeutic fVIII can make inhibitory antibodies, the majority of which are reactive with its C2 and A2 domains.
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
|
| Product By Gene ID |
2157 |
| Alternate Names |
- AHF
- Antihemophilic factor
- coagulation factor VIII, procoagulant component
- coagulation factor VIIIc
- DXS1253E
- F8Ccoagulation factor VIII
- factor VIII F8B
- FVIII
- HEMAF8B
- Procoagulant component
|
