Journal of Blood Disorders & Transfusion

Ruiz-Sáez A

Publications

• Research Article
  Fibrinogen Maracaibo: Hypo-Dysfibrinogenemia Caused by a Heterozygous Mutation in the Gen that Encodes for the Fibrinogen Aα Chain (G.1194G>A: P.Gly13>Glu) with Diminished Thrombin Generation
  Author(s): Marchi R, Rojas H, Echenagucia M, Meyer M, Acosta M, Apitz R and Ruiz-Sáez AMarchi R, Rojas H, Echenagucia M, Meyer M, Acosta M, Apitz R and Ruiz-Sáez A
  
  Introduction: Hereditary fibrinogen abnormalities can be quantitative and/or qualitative. In hypofibrinogenemia and hypodysfibrinogenemia fibrinogen levels are below 150 mg/dL. Objectives: The aim of the present work was to characterize the fibrinogen abnormalities in a family where the propositus (an asymptomatic four-year-old male) and his mother had prolonged thrombin time and low fibrinogen levels. Methods: Fibrinogen genes were sequenced. Preliminary studies were performed on fibrin (ogen) function and fibrin network characteristics. Fibrin formation kinetic was done in plasma and purified fibrinogen. Fibrin network porosity was measured and fibrin structure visualized by laser scanning confocal microscopy (LSCM). In addition, global haemostatic tests such as thrombin generation and thromboelastography were performed. Results: DNA analysis revealed a heterozyg.. View More»
  DOI: 10.4172/2155-9864.1000215

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