Inherited disorders of fibrinogen
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Blood
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genetic diseases of fibrinogen
6 August 2007 -
fibrinogen
6 August 2007Definition: Fibrinogen is an essential protein in coagulation cascade.
Fibrinogen is produced in the hepatocyte from 3 homologous polypeptide chains, Aα (FGA), Bβ (FGB), and γ (FGG), which assemble to form the hexameric structure (AαBβγ)2.
The hexamer is characterized by a symmetrical trinodal (D-E-D) structure, with a central E domain connected to 2 peripheral D domains.
The E domain, which comprises the N-terminal ends of all 6 chains, is prolonged by two three-stranded coiled-coil regions (...) -
hereditary hypofibrinogenemia
6 August 2007Definition: Hypofibrinogenemia is a rare inherited disorder characterized by low levels of circulating fibrinogen, caused by mutations within 1 of the 3 fibrinogen genes.
Etiology
As hereditary afibrinogenemia, hereditary hypofibrinogenemia is the result of mutation in one or another of the 3 fibrinogen genes, alpha (FGA) (MIM.134820), beta (FGB) (MIM.134830), or gamma (FGG) (MIM.134850).
Complete absence of detectable fibrinogen, true congenital afibrinogenemia, was first demonstrated (...) -
quantitative fibrinogen anomalies
6 August 2007quantitative fibrinogen disorders
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pernicious anemia
12 June 2007Biermer’s anemia, Addison’s anemia, or Addison–Biermer anemia WKP eMedicine
Definition: Pernicious anemia is one of many types of the larger family of megaloblastic anemias. It is caused by loss of gastric parietal cells which are responsible, in part, for the secretion of intrinsic factor, a protein essential for subsequent absorption of vitamin B12 in the ileum.
Usually seated in an atrophic gastritis, the autoimmune destruction of gastric parietal cells (and autoantibody inactivation (...) -
blood proteome
25 November 2006blood peptidome
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platelet activation
12 February 2006See also
platelets
cell activation
References
Davì G, Patrono C. Platelet activation and atherothrombosis. N Engl J Med. 2007 Dec 13;357(24):2482-94. PMID: #18077812# -
platelets
12 February 2006See also
platelet activation -
fragmented red cells
2 February 2006Etiology
thrombotic microangiopathy -
inflammatory anemia
31 January 2006anemia of chronic disease