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Bernard‐Soulier syndrome in two Swedish families: Effect of DDAVP on bleeding time
Author(s) -
Waldenström Erik,
Holmberg Lars,
Axelsson Uno,
Winqvist Ingemar,
Nilsson Inga Marie
Publication year - 1991
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1991.tb01274.x
Subject(s) - bernard–soulier syndrome , platelet , vasopressin , medicine , heterozygote advantage , ristocetin , bleeding time , endocrinology , arginine , gastroenterology , von willebrand factor , platelet aggregation , biology , genetics , gene , amino acid , allele
We present 2 patients with Bernard‐Soulier syndrome from two different families. The parents of one of the patients were found to have had common ancestors in the 17th century. The platelet membrane content of glycoprotein (GP)Ib was measured in the patients and their first‐degree relatives with an ELISA technique based on monoclonal antibodies. Both patients had very low levels of GPIb. In one of the families the heterozygotes had reduced expression of GPIb but in the other the obligate heterozygotes had normal values, suggesting that the molecular pathology differs between the two families. In both patients, bleeding time was shortened by infusion of DDAVP (1‐deamino‐8‐D‐arginine vasopressin), although it was not completely normalised. DDAVP may be of some therapeutic value in cases of Bernard‐Soulier syndrome.