Two human diseases of platelet storage pool deficiency (SPD). Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. are recessively inherited disorders characterized by hypopigmentation. prolonged bleeding. and normal platelet counts accompanied by a reduction in dense granule number. We have recently described seven independent recessive mutations in the mouse regulated by separate genes whi...

Seven mouse pigment mutants, which have alterations at distinct genes, are known to have a defect in kidney lysosomal enzyme secretion. Two of these, beige and pale ear, have a bleeding abnormality associated with a deficiency in the number of platelet dense granules. In the present study, five other mutants with defective lysosomal enzyme secretion--pearl, pallid, light ear, maroon, and ruby-e...

Platelets store a plethora of different molecules within their granules, modulating numerous pathways, not only in coagulation, but also in angiogenesis, wound healing, and inflammatory diseases. These molecules get rapidly released upon activation and therefore represent an easily accessible indirect marker for platelet activation. Accurate analysis of platelet-derived molecules in the plasma ...

BACKGROUND Storing platelets for transfusion at room temperature increases the risk of microbial infection and decreases platelet functionality, leading to out-date discard rates of up to 20%. Cold storage may be a better alternative, but this treatment leads to rapid platelet clearance after transfusion, initiated by changes in glycoprotein Ibα, the receptor for von Willebrand factor. DESIGN...

purpose: to report a case of hermansky-pudlak syndrome (hps). case report: a 7-year-old boy presented with marked generalized hypopigmentation, eye deviation and nystagmus. in addition he had history of easy bruising. visual acuity was 20/200. he had markedly translucent green irides, hypermetropic astigmatism, horizontal nystagmus and marked exotropia. funduscopy revealed a hypopigmented retin...

Gene therapy is an attractive approach for disease treatment. Since platelets are abundant cells circulating in blood with the distinctive abilities of storage and delivery and fundamental roles in hemostasis and immunity, they could be a unique target for gene therapy of diseases. Recent studies have demonstrated that ectopic expression of factor VIII (FVIII) in platelets under control of the ...

BACKGROUND AND OBJECTIVES Oxygen permeability is important in platelet storage media. We compared a new polyolefin container with enhanced oxygen permeability (PO-80; Kawasumi, Tokyo, Japan) to a widely used alternative (PL2410; Baxter Healthcare, Deerfield, IL, USA). MATERIALS AND METHODS In vitro characteristics of paired platelet concentrates (PCs; mean 4.2 x 10(11)/250 ml plasma/bag) stor...