Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report.

Defects of platelet adhesion, aggregation, secretion, or procoagulant activities can lead to bleeding diathesis of variable severity. We used recombinant activated factor VII (rFVIIa) in the treatment of uncontrolled epistaxis in a patient with a qualitative platelet disorder. We aimed to assess the efficacy of a single rFVIIa dose (100 microg/kg) in the control of mild and severe refractory epistaxis, and evaluate the influence of rFVIIa on markers of platelet adhesion and aggregation during a period of hematological stability (i.

Critical cysteine residues for regulation of integrin alphaIIbbeta3 are clustered in the epidermal growth factor domains of the beta3 subunit.

Chemical or enzymic reduction/oxidation of integrin cysteine residues (e.g. by reducing agents and protein disulphide isomerase) may be a mechanism for regulating integrin function.

Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene.

We report a family with Bernard-Soulier syndrome with a homozygous mutation within the GPIb(beta) gene. The proband was a 24-year-old Japanese male who has suffered from life-long bleeding tendency. The patient's sister also had severe bleeding episodes.