"Dysfibrinogenemia Jujuy", associated to bleeding disorders

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, bo...

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Detalles Bibliográficos
Autores principales:	Lauricella, A.M., Sittinger, K., Geisen, C., Kordich, L.C.
Formato:	JOUR
Materias:	Coagulation tests Dysfibrinogenemia Fibrin formation Fibrin lysability
Acceso en línea:	http://hdl.handle.net/20.500.12110/paper_03252957_v50_n2_p215_Lauricella
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	todo:paper_03252957_v50_n2_p215_Lauricella
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spelling	todo:paper_03252957_v50_n2_p215_Lauricella2023-10-03T15:23:44Z "Dysfibrinogenemia Jujuy", associated to bleeding disorders Lauricella, A.M. Sittinger, K. Geisen, C. Kordich, L.C. Coagulation tests Dysfibrinogenemia Fibrin formation Fibrin lysability 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. Fil:Kordich, L.C. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_03252957_v50_n2_p215_Lauricella
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	Coagulation tests Dysfibrinogenemia Fibrin formation Fibrin lysability
spellingShingle	Coagulation tests Dysfibrinogenemia Fibrin formation Fibrin lysability Lauricella, A.M. Sittinger, K. Geisen, C. Kordich, L.C. "Dysfibrinogenemia Jujuy", associated to bleeding disorders
topic_facet	Coagulation tests Dysfibrinogenemia Fibrin formation Fibrin lysability
description	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.
format	JOUR
author	Lauricella, A.M. Sittinger, K. Geisen, C. Kordich, L.C.
author_facet	Lauricella, A.M. Sittinger, K. Geisen, C. Kordich, L.C.
author_sort	Lauricella, A.M.
title	"Dysfibrinogenemia Jujuy", associated to bleeding disorders
title_short	"Dysfibrinogenemia Jujuy", associated to bleeding disorders
title_full	"Dysfibrinogenemia Jujuy", associated to bleeding disorders
title_fullStr	"Dysfibrinogenemia Jujuy", associated to bleeding disorders
title_full_unstemmed	"Dysfibrinogenemia Jujuy", associated to bleeding disorders
title_sort	"dysfibrinogenemia jujuy", associated to bleeding disorders
url	http://hdl.handle.net/20.500.12110/paper_03252957_v50_n2_p215_Lauricella
work_keys_str_mv	AT lauricellaam dysfibrinogenemiajujuyassociatedtobleedingdisorders AT sittingerk dysfibrinogenemiajujuyassociatedtobleedingdisorders AT geisenc dysfibrinogenemiajujuyassociatedtobleedingdisorders AT kordichlc dysfibrinogenemiajujuyassociatedtobleedingdisorders
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"Dysfibrinogenemia Jujuy", associated to bleeding disorders

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