Artículo

Lauricella, A.M.; Sittinger, K.; Geisen, C.; Kordich, L.C. ""Dysfibrinogenemia Jujuy", associated to bleeding disorders " (2016) Acta Bioquimica Clinica Latinoamericana. 50(2):215-221
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Abstract:

The aim of this work was to study a young female with moderate bleeding symptoms, to characterize the plasma fibrin and to identify the possible molecular alteration in the fibrinogen of the patient and her family. A dysfibrinogenemia was diagnosed in the patient, the mother and the half-brother, both the latter asymptomatic. Kinetic parameters obtained from fibrin formation and lysis assays of the patient's plasma samples were significantly different compared to the ones obtained with control plasma. A prolonged lag phase indicated slow and defective fibrinopeptide releases, whereas a minor slope suggested an impaired fibrin assembly. A lower ODMax revealed a fibrin network composed of thinner fibers. Fibrinolysis induced by streptokinase resulted faster than control. DNA sequencing showed a homozygous deletion leading to AaGly14del (according to http://www.geht.org/databaseang/fibrinogen). The mother and the half-brother resulted heterozygous for the same mutation. This previously undescribed alteration was named fibrinogen Jujuy. The mutate fibrinogen might not be correctly fixed to the active site of thrombin resulting in slow cleavage and release of fibrinopeptides, rendering thinner fibers, more susceptible to lysis than control. This mechanism may explain the moderate bleeding symptoms of the patient.

Registro:

Documento: Artículo
Título:"Dysfibrinogenemia Jujuy", associated to bleeding disorders
Autor:Lauricella, A.M.; Sittinger, K.; Geisen, C.; Kordich, L.C.
Filiación:Laboratorio de Hemostasia y Trombosis, Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Ciudad Autónoma de Buenos Aires, Pabellón II, piso 40, Güiraldes, Buenos Aires, 2160, Argentina
German Red Cross Blood Centre, Institute of Transfusion Medicine and Immunohematology, Goethe University, Frankfurt, Germany
Palabras clave:Coagulation tests; Dysfibrinogenemia; Fibrin formation; Fibrin lysability
Año:2016
Volumen:50
Número:2
Página de inicio:215
Página de fin:221
Título revista:Acta Bioquimica Clinica Latinoamericana
Título revista abreviado:Acta Bioquim. Clin. Latinoam.
ISSN:03252957
CODEN:ABCLD
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v50_n2_p215_Lauricella

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Citas:

---------- APA ----------
Lauricella, A.M., Sittinger, K., Geisen, C. & Kordich, L.C. (2016) . "Dysfibrinogenemia Jujuy", associated to bleeding disorders . Acta Bioquimica Clinica Latinoamericana, 50(2), 215-221.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v50_n2_p215_Lauricella [ ]
---------- CHICAGO ----------
Lauricella, A.M., Sittinger, K., Geisen, C., Kordich, L.C. ""Dysfibrinogenemia Jujuy", associated to bleeding disorders " . Acta Bioquimica Clinica Latinoamericana 50, no. 2 (2016) : 215-221.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v50_n2_p215_Lauricella [ ]
---------- MLA ----------
Lauricella, A.M., Sittinger, K., Geisen, C., Kordich, L.C. ""Dysfibrinogenemia Jujuy", associated to bleeding disorders " . Acta Bioquimica Clinica Latinoamericana, vol. 50, no. 2, 2016, pp. 215-221.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v50_n2_p215_Lauricella [ ]
---------- VANCOUVER ----------
Lauricella, A.M., Sittinger, K., Geisen, C., Kordich, L.C. "Dysfibrinogenemia Jujuy", associated to bleeding disorders . Acta Bioquim. Clin. Latinoam. 2016;50(2):215-221.
Available from: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v50_n2_p215_Lauricella [ ]