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Literature DB >> 20180944

Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report.

Gopakumar Hariharan¹, Sivji Ramachandran, Rajiv Parapurath.

Abstract

Congenital afibrinogenemia is a very rare inherited coagulation disorder, characterized by virtual absence of plasma fibrinogen (factor I). There are only about 250 cases reported in the world literature 1. We describe a case of congenital afibrinogenemia which presented as an antenatally detected intracranial bleed.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：
Fibrinogen

Year: 2010 PMID： 20180944 PMCID： PMC2841604 DOI： 10.1186/1824-7288-36-1

Source DB: PubMed Journal: Ital J Pediatr ISSN： 1720-8424 Impact factor: 2.638

13 in total

1. Recombinant fibrinogen Vlissingen/Frankfurt IV. The deletion of residues 319 and 320 from the gamma chain of firbinogen alters calcium binding, fibrin polymerization, cross-linking, and platelet aggregation.

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Journal: Arch Pathol Lab Med Date: 2002-11 Impact factor: 5.534

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Journal: Blood Date: 1993-10-15 Impact factor: 22.113

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Authors: R C Rodriguez; G R Buchanan; M S Clanton
Journal: Clin Pediatr (Phila) Date: 1988-11 Impact factor: 1.168

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Authors: D K Galanakis
Journal: Hematol Oncol Clin North Am Date: 1992-10 Impact factor: 3.722

8. Modification of fibrinogen by homocysteine thiolactone increases resistance to fibrinolysis: a potential mechanism of the thrombotic tendency in hyperhomocysteinemia.

Authors: Derrick L Sauls; Evelyn Lockhart; Maria Esteban Warren; Angela Lenkowski; Susan E Wilhelm; Maureane Hoffman
Journal: Biochemistry Date: 2006-02-28 Impact factor: 3.162

9. Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain.

Authors: J B Rosenberg; P J Newman; M W Mosesson; M C Guillin; D L Amrani
Journal: Thromb Haemost Date: 1993-03-01 Impact factor: 5.249

4. Afibrinogenemia Diagnosed During Pregnancy Successfully Managed with Targeted Cryoprecipitate Transfusion: A Case Report.

Authors: Athulya Shajan; Neetha George; Sareena Gilvaz; Siju V Abraham
Journal: J Obstet Gynaecol India Date: 2020-11-17

4 in total