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.
- 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...
- Kirchmaier C, Meyer M, Spangenberg P, Heller R, Haroske D, Breddin H, et al. Platelet membrane defects in fawn hooded bleeder rats. Thromb Res. 1990;57:353-60 pubmed..It seems likely, that this glycoprotein defect contributes at least partially to the disorder of platelet function in fawn hooded bleeder rats. ..
- 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. ..
- Shanahan F, Randolph L, King R, Oseas R, Brogan M, Witkop C, et al. Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases. Am J Med. 1988;85:823-8 pubmed..We propose that future studies should examine the possibility that associated disorders arise from a defect within the monocyte-macrophage system, perhaps secondary to ceroid accumulation. ..
- Meschengieser S, Alberto M, Salviú J, Bermejo E, Lazzari M. Recurrent haemoperitoneum in a mild von Willebrand's disease combined with a storage pool deficit. Blood Coagul Fibrinolysis. 2001;12:207-9 pubmed
- 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...
- Keating E, Lawson R, Li T, Makris M. Monthly haemoptysis in a woman with platelet storage pool disease. Clin Lab Haematol. 2000;22:295-6 pubmed..This was subsequently confirmed on premenstrual CT scanning. The introduction of a specific hormonal therapy and multidisciplinary input was ultimately successful. ..
- 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. ..
- Lothrop C, Candler R, Pratt H, Urso I, Jones J, Carroll R. Characterization of platelet function in cyclic hematopoietic dogs. Exp Hematol. 1991;19:916-22 pubmed..These data suggest that there is a biochemical defect in platelets from CH dogs that results in storage pool disease and decreased phosphorylation of a 40-kd protein. ..
- Gawaz M, Bogner C, Gurland H. Flow-cytometric analysis of mepacrine-labelled platelets in patients with end-stage renal failure. Haemostasis. 1993;23:284-92 pubmed..Thus, the current data indicate that ESRD is associated with an acquired platelet SPD which may be a useful and rapid method for screening patients with suspected acquired or inherited SPD. ..
- 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. ..
- Vo K, Grooms L, Klima J, Holland Hall C, O Brien S. Menstrual bleeding patterns and prevalence of bleeding disorders in a multidisciplinary adolescent haematology clinic. Haemophilia. 2013;19:71-5 pubmed publisher..Sixty-two per cent of patients were diagnosed with a bleeding disorder, including platelet storage pool deficiency (36%), von Willebrand's disease (9%), other platelet function defect (8%), Ehlers-Danlos syndrome (7%)..
- Fujimori H, Ozaki K, Nomura S, Nishikawa T, Pan Hou H, Nishimura M, et al. Characterization of platelet abnormalities of Tester Moriyama (TM) rats with storage pool deficiency. Lab Anim Sci. 1998;48:490-5 pubmed..with normal platelet count, were characterized by comparison with those of fawn-hooded (FH) rats with platelet storage pool deficiency (SPD). Morphologically, the dense granules were virtually lacking in platelets from TM and FH rats...
- Masliah Planchon J, Flaujac C, Tapon Bretaudiere J, Cramer Bordé E, Darnige L. [Review: delta-storage pool disease]. Ann Biol Clin (Paris). 2008;66:365-9 pubmed publisher..Electron microscopy is the major tool for biological diagnosis. Patients presenting with this platelet disorder generally show a mild bleeding syndrome. ..
- Wijermans P, Van Dorp D. Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin. Am J Hematol. 1989;30:154-7 pubmed..A good response was observed in this type of storage pool disease. DDAVP might be useful in managing the bleeding disorder found in patients with the Hermansky-Pudlak syndrome. ..
- Fushuku S, Deguchi E, Akuzawa M. Morphological changes of platelets following platelet aggregation induced by collagen in Japanese Black cattle with delta-storage pool deficiency. J Vet Med Sci. 1999;61:971-4 pubmed..These results suggested that there are abnormalities in the release reactions in platelets of delta-SPD cattle. ..
- 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. ..
- Berty R, Zeigler Z, Bruns F. Potentiation of uremic bleeding by hereditary storage pool disease. Am J Kidney Dis. 1992;19:326-30 pubmed..An underlying platelet disorder may potentiate the hemostatic defects of uremia. The diagnosis should be suspected in patients with frequent and severe bleeding manifestations. Renal transplantation led to control of clinical bleeding. ..
- 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. ..
- Ghosh S, Rao A. Lack of effect of 1-desamino-8-D-arginine vasopressin on direct adhesion of platelets to collagen. Thromb Res. 1993;70:417-22 pubmed..Therefore, we studied the effect also of plasma samples obtained from patients treated with DDAVP on adhesion of platelets to collagen. ..
- Arderiu G, Diaz Ricart M, Domenech P, Escolar G, Ordinas A, Pujol Moix N. Phosphotyrosine proteins in platelets from patients with storage pool disease: direct relation between granule defects and defective signal transduction. Haematologica. 2002;87:629-36 pubmed..A minimum amount of intraplatelet granules ensures signaling through tyrosine phosphorylation of proteins. ..
- 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...
- Croitoru A, Hytiroglou P, Schwartz M, Saxena R. Liver transplantation for liver rupture due to light chain deposition disease: a case report. Semin Liver Dis. 2006;26:298-303 pubmed..In this case, the deposits were composed of unbranched fibrils, which measured 12 to 20 nm in width, did not possess a hollow core, and were arranged randomly rather than in structured arrays. ..
- Morgan L, Miller E, Raj A, Coventry S, Elster J. Angiomatoid Fibrous Histiocytoma With Paraneoplastic Platelet Storage Pool Deficiency. Pediatrics. 2018;141: 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. ..
- Gerrard J, McNicol A. Platelet storage pool deficiency, leukemia, and myelodysplastic syndromes. Leuk Lymphoma. 1992;8:277-81 pubmed
- 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. ..
- Falke S, Avenarius H, Deicher H. [The induction of an acquired storage pool deficiency of the thrombocytes by IgG antibodies in systemic lupus erythematosus and chronic polyarthritis]. Z Rheumatol. 1990;49:70-6 pubmed..Thus, IgG platelet antibodies in RA and SLE can cause a functional impairment of patients' platelets, and may also be instrumental in systemic inflammatory rheumatoid disease by releasing proinflammatory mediators. ..
- Radvanyi Hofmann H, Roussi J, Launay J, Bonneau M, Prevost M, Vargaftig B, et al. Characterization of a thrombopathy (type delta storage pool disease) affecting a pig colony. Nouv Rev Fr Hematol. 1992;34:133-40 pubmed..Normal plasma and platelet alpha granule content of vWF are found in diseased animals. An intermediate disorder is also detected in animals not severely affected, which may represent the heterozygous state. ..
- 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. ..
- McGarry M, Novak E, Reddington M, Swank R. Effects of mixed chimeric bone marrow repopulation on platelet storage pool-associated bleeding defects in mouse mutants. Exp Hematol. 1990;18:1174-9 pubmedWe have previously shown mouse platelet storage pool deficiency (SPD) to be associated with lesions at eight different genetic loci, each of which is sufficient to produce murine SPD...
- Pap Z, Ajzner E, Kiss C, Emódy J, Závodszky I, Horvath A, et al. [Thrombocyte dysfunction in children with albinism]. Orv Hetil. 1997;138:467-71 pubmed..The high frequency of haemorrhagic diathesis in albino children emphasizes, the importance of the screening of patients with albinism for bleeding diathesis. ..
- Lages B, Weiss H. Enhanced increases in cytosolic Ca2+ in ADP-stimulated platelets from patients with delta-storage pool deficiency--a possible indicator of interactions between granule-bound ADP and the membrane ADP receptor. Thromb Haemost. 1997;77:376-82 pubmed..Thus, in addition to enhancing platelet activation, dense granule ADP could also act to limit the ADP-mediated reactivity of platelets exposed in vivo to low levels of stimulation. ..
- Maurer Spurej E, Pittendreigh C, Wu J. Diagnosing platelet delta-storage pool disease in children by flow cytometry. Am J Clin Pathol. 2007;127:626-32 pubmed..The advantages of this test are small sample volume of fresh or fixed/frozen platelets, availability of objective results within 2 hours of obtaining the blood sample, and automated analysis by flow cytometry. ..
- 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
- Pujol Moix N, Hernandez A, Escolar G, Español I, Martinez Brotons F, Mateo J. Platelet ultrastructural morphometry for diagnosis of partial delta-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases. Haematologica. 2000;85:619-26 pubmed..Platelet ultrastructural morphometry is useful in diagnosing this condition. ..
- 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. ..
- Lesesve J, Latger Cannard V, Lecompte T. Pseudo-storage pool disease due to platelet degranulation in EDTA-collected peripheral blood: a rare artifact. Clin Lab Haematol. 2005;27:336-42 pubmed..Reports of EDTA-induced pseudo-storage pool disease are scarce, possibly because underestimation of this poorly explained and difficult to diagnose phenomenon. ..
- Hamada S, Nishikawa T, Yokoi N, Serikawa T. TM rats: a model for platelet storage pool deficiency. Exp Anim. 1997;46:235-9 pubmed..have a light brown hooded coat pattern resembling that of Fawn hooded (FH) rats which are a model of platelet storage pool deficiency (SPD). We examined whether the TM strain has the same platelet SPD as the FH strain...