| Congenital afibrinogenemia | |
|---|---|
| Specialty | Hematology  |
Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood does not clot normally due to the lack of fibrinogen, a blood protein necessary for coagulation.[1] This disorder is autosomal recessive, meaning that two unaffected parents can have a child with the disorder.[2] The lack of fibrinogen expresses itself with excessive and, at times, uncontrollable bleeding.[3]
- ^ Neerman-Arbez, Marguerite; De Moerloose, Philippe (2007). "Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: An update and report of 10 novel mutations". Human Mutation. 28 (6): 540–53. doi:10.1002/humu.20483. PMID 17295221. S2CID 20398127.
- ^ Acharya, Suchitra S (2023-04-20). "Inherited Abnormalities of Fibrinogen: Practice Essentials, Pathophysiology, Epidemiology". Medscape Reference. Retrieved 2024-06-24.
- ^ Vu, Dung; Bolton-Maggs, Paula H. B.; Parr, Jeremy R.; Morris, Michael A.; Moerloose, Philippe de; Neerman-Arbez, Marguerite (2003-12-15). "Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion". Blood. 102 (13): 4413–4415. doi:10.1182/blood-2003-06-2141. ISSN 0006-4971. PMID 12893758.