Glanzmann thrombasthenia in children from Argentina

Purpose: Glanzmann thrombasthenia is a well-defined inherited disorder of platelet function characterized by a decrease or absence of functional platelet glycoprotein (GP) GPIIbIIIa. The diagnosis must be considered in patients presenting with mucocutaneous bleeding, purpura, a normal platelet count...

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Autores principales:	Sassetti, Beatriz, Kordich, Lucía Clelia
Publicado:	1996
Materias:	Bleeding disorder GPIIbIIIa GT Pediatrics fibrinogen receptor adolescent argentina article autosomal recessive disorder bleeding bleeding time child clinical article disease classification female glanzmann disease human male priority journal purpura thrombocyte aggregation Adolescent Argentina Blotting, Southern Child Child, Preschool Female Humans Immunoenzyme Techniques Infant Male Megakaryocytes Platelet Glycoprotein GPIIb-IIIa Complex Thrombasthenia
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10774114_v18_n1_p23_Sassetti http://hdl.handle.net/20.500.12110/paper_10774114_v18_n1_p23_Sassetti
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_10774114_v18_n1_p23_Sassetti
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spelling	paper:paper_10774114_v18_n1_p23_Sassetti2023-06-08T16:05:28Z Glanzmann thrombasthenia in children from Argentina Sassetti, Beatriz Kordich, Lucía Clelia Bleeding disorder GPIIbIIIa GT Pediatrics fibrinogen receptor adolescent argentina article autosomal recessive disorder bleeding bleeding time child clinical article disease classification female glanzmann disease human male priority journal purpura thrombocyte aggregation Adolescent Argentina Blotting, Southern Child Child, Preschool Female Humans Immunoenzyme Techniques Infant Male Megakaryocytes Platelet Glycoprotein GPIIb-IIIa Complex Thrombasthenia Purpose: Glanzmann thrombasthenia is a well-defined inherited disorder of platelet function characterized by a decrease or absence of functional platelet glycoprotein (GP) GPIIbIIIa. The diagnosis must be considered in patients presenting with mucocutaneous bleeding, purpura, a normal platelet count, abnormal platelet aggregation, and a prolonged bleeding time. In most of the patients, the presence of small amounts of either GPIIb or GPIIIa was detected in their platelets. These observations could provide a basis for determining the clinical and laboratory heterogeneity of the disease. Patients and Methods: We studied 10 patients of seven unrelated families with the usual methods and an immunoalkaline phosphatase technique (APAAP) to analyze the biosynthesis of GP in megakaryocytes. Results: The results allowed us to classify six patients as GT type I, three as type II, and one as a variant. Conclusion: The nature and severity of the bleeding manifestations, in our patients, were not predictible by the laboratory findings. These confirm the clinical and laboratory heterogeneity of the disease. Fil:Sassetti, B. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Kordich, L. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 1996 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10774114_v18_n1_p23_Sassetti http://hdl.handle.net/20.500.12110/paper_10774114_v18_n1_p23_Sassetti
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	Bleeding disorder GPIIbIIIa GT Pediatrics fibrinogen receptor adolescent argentina article autosomal recessive disorder bleeding bleeding time child clinical article disease classification female glanzmann disease human male priority journal purpura thrombocyte aggregation Adolescent Argentina Blotting, Southern Child Child, Preschool Female Humans Immunoenzyme Techniques Infant Male Megakaryocytes Platelet Glycoprotein GPIIb-IIIa Complex Thrombasthenia
spellingShingle	Bleeding disorder GPIIbIIIa GT Pediatrics fibrinogen receptor adolescent argentina article autosomal recessive disorder bleeding bleeding time child clinical article disease classification female glanzmann disease human male priority journal purpura thrombocyte aggregation Adolescent Argentina Blotting, Southern Child Child, Preschool Female Humans Immunoenzyme Techniques Infant Male Megakaryocytes Platelet Glycoprotein GPIIb-IIIa Complex Thrombasthenia Sassetti, Beatriz Kordich, Lucía Clelia Glanzmann thrombasthenia in children from Argentina
topic_facet	Bleeding disorder GPIIbIIIa GT Pediatrics fibrinogen receptor adolescent argentina article autosomal recessive disorder bleeding bleeding time child clinical article disease classification female glanzmann disease human male priority journal purpura thrombocyte aggregation Adolescent Argentina Blotting, Southern Child Child, Preschool Female Humans Immunoenzyme Techniques Infant Male Megakaryocytes Platelet Glycoprotein GPIIb-IIIa Complex Thrombasthenia
description	Purpose: Glanzmann thrombasthenia is a well-defined inherited disorder of platelet function characterized by a decrease or absence of functional platelet glycoprotein (GP) GPIIbIIIa. The diagnosis must be considered in patients presenting with mucocutaneous bleeding, purpura, a normal platelet count, abnormal platelet aggregation, and a prolonged bleeding time. In most of the patients, the presence of small amounts of either GPIIb or GPIIIa was detected in their platelets. These observations could provide a basis for determining the clinical and laboratory heterogeneity of the disease. Patients and Methods: We studied 10 patients of seven unrelated families with the usual methods and an immunoalkaline phosphatase technique (APAAP) to analyze the biosynthesis of GP in megakaryocytes. Results: The results allowed us to classify six patients as GT type I, three as type II, and one as a variant. Conclusion: The nature and severity of the bleeding manifestations, in our patients, were not predictible by the laboratory findings. These confirm the clinical and laboratory heterogeneity of the disease.
author	Sassetti, Beatriz Kordich, Lucía Clelia
author_facet	Sassetti, Beatriz Kordich, Lucía Clelia
author_sort	Sassetti, Beatriz
title	Glanzmann thrombasthenia in children from Argentina
title_short	Glanzmann thrombasthenia in children from Argentina
title_full	Glanzmann thrombasthenia in children from Argentina
title_fullStr	Glanzmann thrombasthenia in children from Argentina
title_full_unstemmed	Glanzmann thrombasthenia in children from Argentina
title_sort	glanzmann thrombasthenia in children from argentina
publishDate	1996
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10774114_v18_n1_p23_Sassetti http://hdl.handle.net/20.500.12110/paper_10774114_v18_n1_p23_Sassetti
work_keys_str_mv	AT sassettibeatriz glanzmannthrombastheniainchildrenfromargentina AT kordichluciaclelia glanzmannthrombastheniainchildrenfromargentina
_version_	1768542852114022400

Glanzmann thrombasthenia in children from Argentina

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