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J Pediatr Hematol Oncol ; 18(1): 23-8, 1996 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-8556365

RESUMEN

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.


Asunto(s)
Megacariocitos/metabolismo , Complejo GPIIb-IIIa de Glicoproteína Plaquetaria/biosíntesis , Trombastenia/metabolismo , Adolescente , Argentina , Southern Blotting , Niño , Preescolar , Femenino , Humanos , Técnicas para Inmunoenzimas , Lactante , Masculino , Trombastenia/genética
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