Genomes and Genes
platelet storage pool deficiency
Summary: Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.
- Bachli E, Brack T, Eppler E, Stallmach T, Trueb R, Huizing M, et al. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Am J Med Genet A. 2004;127A:201-7 pubmed..syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis...
- Swank R, Reddington M, Howlett O, Novak E. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood. 1991;78:2036-44 pubmed..has abnormalities of the otoliths of the inner ear together with a bleeding abnormality caused by platelet storage pool deficiency (SPD)...
- Zhen L, Jiang S, Feng L, Bright N, Peden A, Seymour A, et al. Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse. Blood. 1999;94:146-55 pubmed..whose symptoms include hypopigmentation, lysosomal abnormalities, and prolonged bleeding due to platelet storage pool deficiency (SPD)...
- Swank R, Sweet H, Davisson M, Reddington M, Novak E. Sandy: a new mouse model for platelet storage pool deficiency. Genet Res. 1991;58:51-62 pubmed..It represents the tenth example of a mouse mutant with simultaneous defects in melanosomes, lysosomes and/or platelet dense granules. ..
- Novak E, Sweet H, Prochazka M, Parentis M, Soble R, Reddington M, et al. Cocoa: a new mouse model for platelet storage pool deficiency. Br J Haematol. 1988;69:371-8 pubmed..The mutation causes increased bleeding time accompanied by symptoms of platelet storage pool deficiency (SPD), including decreased platelet serotonin and decreased visibility of dense granules as analysed ..
- Gwynn B, Korsgren C, Cohen C, Ciciotte S, Peters L. The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. Genomics. 1997;42:532-5 pubmed..2 mRNA. As the pa mutation originally arose in a wild M. domesticus mouse, we conclude that the Epb4.2 mRNA characteristic of pallid is a normal polymorphism derived from its wild ancestor and that Epb4.2 and pa are distinct loci. ..
- Huang L, Kuo Y, Gitschier J. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nat Genet. 1999;23:329-32 pubmedPallid (pa) is 1 of 13 platelet storage pool deficiency (SPD) mouse mutants...
- Novak E, McGarry M, Swank R. Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome. Blood. 1985;66:1196-201 pubmedTwo 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 ..
- Cattaneo M, Lecchi A, Agati B, Lombardi R, Zighetti M. Evaluation of platelet function with the PFA-100 system in patients with congenital defects of platelet secretion. Thromb Res. 1999;96:213-7 pubmed..The collagen/epinephrine cartridge is more sensitive than the collagen/adenosine diphosphate cartridge to defects of platelet secretion. ..
- Zhang Q, Zhen L, Li W, Novak E, Collinson L, Jang E, et al. Cell-specific abnormal prenylation of Rab proteins in platelets and melanocytes of the gunmetal mouse. Br J Haematol. 2002;117:414-23 pubmed..Further, the tissue-specific effects of the gunmetal mutation suggest that RabGGTase is a potential target for therapy of thrombocytosis. ..
- Novak E, Gautam R, Reddington M, Collinson L, Copeland N, Jenkins N, et al. The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background. Blood. 2002;100:128-35 pubmed..of patients with Griscelli syndrome, presents with hypopigmentation, prolonged bleeding times, and platelet storage pool deficiency due to a mutation which abrogates expression of the Rab27a protein...
- Corral J, Gonzalez Conejero R, Pujol Moix N, Domenech P, Vicente V. Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency. Haematologica. 2004;89:325-9 pubmed..Mutations affecting the HPS1 gene play a minor role in isolated PDG deficiency. These results support a molecular heterogeneity responsible for the number and morphology of PDG. ..
- Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser Kupfer M, Kuehl E, et al. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Genet Metab. 1998;64:99-107 pubmedHermansky-Pudlak syndrome (HPS) consists of oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis...
- O Brien E, Novak E, Zhen L, Manly K, Stephenson D, Swank R. Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). Mamm Genome. 1995;6:19-24 pubmedThe recessive muted (mu) and pearl (pe) mutations on Chromosome (Chr) 13 cause pigment dilution and platelet storage pool deficiency (SPD) in mice...
- Jackson S, Schoenwaelder S. Procoagulant platelets: are they necrotic?. Blood. 2010;116:2011-8 pubmed publisher..We will also discuss the potential contribution of these pathways to the platelet storage lesion and propose a simplified nomenclature to describe procoagulant platelets. ..
- Burgers J, Schweizer R, Koenderman L, Bruijnzeel P, Akkerman J. Human platelets secrete chemotactic activity for eosinophils. Blood. 1993;81:49-55 pubmed..Thus, platelets secrete factors that activate eosinophils and may contribute to inflammatory and allergic processes. ..
- Di Michele M, Thys C, Waelkens E, Overbergh L, D Hertog W, Mathieu C, et al. An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect. J Proteomics. 2011;74:902-13 pubmed publisher..In conclusion, our study shows that the dense granule secretion defect in patients with platelet storage pool disease is highly heterogeneous with evidence of an underlying cytoskeleton defect. ..
- Sevilla L, Richter S, Miller J. Intracellular transport of MHC class II and associated invariant chain in antigen presenting cells from AP-3-deficient mocha mice. Cell Immunol. 2001;210:143-53 pubmed..The possible role of other known or unknown adaptor complexes in class II-invariant chain transport is discussed...
- Weiss H, Lages B. Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome. Blood. 1997;89:1599-611 pubmed..In addition, the study provides further support for the concept that the development of agents that could induce a Scott syndrome defect in normal platelets may provide a new approach to antithrombotic therapy. ..
- Wall J, Buijs Wilts M, Arnold J, Wang W, White M, Jennings L, et al. A flow cytometric assay using mepacrine for study of uptake and release of platelet dense granule contents. Br J Haematol. 1995;89:380-5 pubmed..Flow cytometry provides an attractive alternative to aggregation and radioactive serotonin as methods to study defects in platelet dense granule function. ..
- Ferreira C, Chen D, Abraham S, Adams D, Simon K, Malicdan M, et al. Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. Mol Genet Metab. 2017;120:288-294 pubmed publisherCombined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern...
- Bryan M, Tolman N, Simon K, Huizing M, Hufnagel R, Brooks B, et al. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Mol Genet Metab. 2017;120:378-383 pubmed publisher..evaluation of the first pediatric case reported with HPS-7 reveals oculocutaneous albinism and platelet storage pool deficiency; his phenotype is consistent with findings in other patients with BLOC-1 disorders...
- Datta Y, Wu F, Dumas P, Rangel Filho A, Datta M, Ning G, et al. Genetic mapping and characterization of the bleeding disorder in the fawn-hooded hypertensive rat. Thromb Haemost. 2003;89:1031-42 pubmed..Therefore positional cloning of the gene responsible for the bleeding disorder in the FHH rat will lead to new insights in platelet physiology, with implications for diagnosis and management of hemostatic and thrombotic disorders...
- Morgan L, Miller E, Raj A, Coventry S, Elster J. Angiomatoid Fibrous Histiocytoma With Paraneoplastic Platelet Storage Pool Deficiency. Pediatrics. 2018;: pubmed publisher..Her initial presentation was concerning for an underlying bleeding disorder, and laboratory analysis uncovered a paraneoplastic platelet function disorder that resolved with therapy of the primary tumor. ..
- Suzuki T, Ohga H, Katayama T, Egi K, Fujiwara H, Mizushima M. A girl with Hermansky-Pudlak syndrome. Acta Ophthalmol (Copenh). 1991;69:256-60 pubmed..Funduscopy resulted in a diagnosis of ocular albinism. Further investigations, specifically, microscopy of her platelets, led us to conclude that she had Hermansky-Pudlak syndrome...
- Weiss H, Lages B, Vicic W, Tsung L, White J. Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency. Br J Haematol. 1993;83:282-95 pubmed..Additional defects may account for the more extensive granule abnormalities observed in alpha delta-SPD. ..
- Sagai T, Koide T, Endo M, Tanoue K, Kikkawa Y, Yonekawa H, et al. rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping. Mamm Genome. 1998;9:2-7 pubmed..Thus, rim2 appeared to be a new allele of the pe locus and serves as a mouse model for human HPS. We have made a YAC contig covering the rim2/pe locus toward positional cloning of the causative gene. ..
- Rao A, Jalagadugula G, Sun L. Inherited defects in platelet signaling mechanisms. Semin Thromb Hemost. 2004;30:525-35 pubmed..There is a pressing need for a concerted effort to delineate the molecular mechanisms in the large group of patients with impaired platelet function who represent an untapped reservoir of new information into normal platelet function. ..
- Ringeisen A, Schimmenti L, White J, Schoonveld C, Summers C. Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. J AAPOS. 2013;17:334-6 pubmed publisher..We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature. This report highlights the importance of typing HPS to counsel patients regarding disease prognosis. ..
- Almeida A, Khair K, Hann I, Liesner R. The use of recombinant factor VIIa in children with inherited platelet function disorders. Br J Haematol. 2003;121:477-81 pubmed
- Simon D, Kunicki T, Nugent D. Platelet function defects. Haemophilia. 2008;14:1240-9 pubmed publisher..Currently much effort is being put into methods to more rapidly and accurately diagnose patients with platelet disorders and to initiate appropriate therapy and prevent life threatening bleeding. ..
- McGarry M, Novak E, Swank R. Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. Exp Hematol. 1986;14:261-5 pubmed..These findings suggest that in severe cases human SPD may be amenable to treatment by bone marrow transplantation. ..
- Rajpal G, Pomerantz J, Ragni M, Waters J, Vallejo M. The use of thromboelastography for the peripartum management of a patient with platelet storage pool disorder. Int J Obstet Anesth. 2011;20:173-7 pubmed publisher..The use of thromboelastography in the assessment and management of bleeding risk in the setting of platelet storage pool disorder is described. ..
- Terade H, Niikura H, Mori H, Hagiwara S, Takizawa Y, Okada S, et al. [Megaloblastic anemia and platelet function--a qualitative platelet defect in pernicious anemia]. Rinsho Ketsueki. 1990;31:254-5 pubmed..In summary, the acquired defects of platelet function in pernicious anemia are regarded as a secondary storage pool disease, and its defects improve after Vitamin B12 therapy. ..