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A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) IB and severely reduced amounts of GPIX and GPV.

Articolo
Data di Pubblicazione:
1998
Abstract:
We describe a new variant of Bernard-Soulier syndrome characterized by almost normal amounts of GPIb and severely reduced GPIX and GPV. Despite surface expression, GPIbalpha failed to support ristocetin-induced platelet agglutination and to bind two conformation-dependent monoclonal antibodies, suggesting a qualitative defect. Sequence analysis of the gene coding for GPIX revealed a T-to-C substitution at base 1811, leading to a Leu40Pro conversion, whereas no defects were found in the coding region of the GPIbalpha gene. Allele-specific restriction enzyme analysis showed that the propositus and one of his sisters. both with severe bleeding diathesis. were homozygous for the GPIX mutation: the members of the family with mild bleeding diathesis and/or giant platelets in the peripheral blood were heterozygous, whereas the healthy ones were homozygous for the normal allele. Infusion of 1-desamino-8-D-arginine vasopressin normalized bleeding time in the two severely affected patients, although it did not modify ristocetin-induced platelet agglutination or membrane expression of GPIbalpha, GPIX, GPIIb-IIIa and GMP-140. Moreover, in one patient, normalization of bleeding time and rise of von Willebrand factor plasma concentration did not seem to be directly related.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Bernard-Soulier syndrome; Inherited thrombocytopenia; Glycoproteins Ib-IX-V; GP Ib alpha
Elenco autori:
Noris, Patrizia; Arbustini, E.; Spedini, P.; Belletti, S.; Balduini, Carlo
Autori di Ateneo:
BALDUINI CARLO
NORIS PATRIZIA
Link alla scheda completa:
https://iris.unipv.it/handle/11571/100274
Pubblicato in:
BRITISH JOURNAL OF HAEMATOLOGY
Journal
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