{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:13:22Z","timestamp":1791328402091,"version":"4.3.1"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Delta storage pool deficiency (\u03b4\u2010<jats:styled-content style=\"fixed-case\">SPD<\/jats:styled-content>) is a rare heterogeneous group of platelet disorders characterized by a reduction in the number or content of dense granules. \u03b4\u2010<jats:styled-content style=\"fixed-case\">SPD<\/jats:styled-content> causes a mild to moderate bleeding diathesis characterized mainly by mucocutaneous bleeding. Currently, no specific treatment is available and the therapeutic approach is based on prevention of excessive bleeding. However, during the last few years, important insights into the pathophysiology of \u03b4\u2010<jats:styled-content style=\"fixed-case\">SPD<\/jats:styled-content> have been achieved using mouse models and dense granule deficiency\u2010associated congenital diseases, such as Hermansky\u2013Pudlak syndrome and Chediak\u2013Higashi syndrome. It thus appears that \u03b4\u2010<jats:styled-content style=\"fixed-case\">SPD<\/jats:styled-content> represents a genetically heterogeneous group of intracellular vesicle biogenesis and\/or trafficking disorders. This review summarizes recent data regarding the molecular mechanisms together with clinical features of the different types of \u03b4\u2010<jats:styled-content style=\"fixed-case\">SPD<\/jats:styled-content>. Although the molecular basis of isolated inherited \u03b4\u2010<jats:styled-content style=\"fixed-case\">SPD<\/jats:styled-content> remains currently unknown, next\u2010generation sequencing strategies should enable researchers to identify the causative genes. Identification of those genes should contribute to our understanding of the pathophysiology, represent useful tools for genetic diagnosis, and eventually lead to new specific therapeutic approaches.<\/jats:p>","DOI":"10.1111\/bjh.12064","type":"journal-article","created":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T16:35:40Z","timestamp":1349109340000},"page":"5-11","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":73,"title":["Molecular determinants of platelet delta storage pool deficiencies: an update"],"prefix":"10.1111","volume":"160","author":[{"given":"Julien","family":"Masliah\u2010Planchon","sequence":"first","affiliation":[{"name":"UF de G\u00e9n\u00e9tique Mol\u00e9culaire AP\u2010HP, H\u00f4pital Robert Debr\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc","family":"Darnige","sequence":"additional","affiliation":[{"name":"Service d'H\u00e9matologie biologique AP\u2010HP, H\u00f4pital Europ\u00e9en Georges Pompidou Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Bellucci","sequence":"additional","affiliation":[{"name":"Service d'H\u00e9matologie biologique AP\u2010HP, H\u00f4pital Lariboisi\u00e8re Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 Paris VII Denis Diderot Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2010.08191.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2003.04286.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-01-404350"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/382262a0"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.145.5.923"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1182\/blood.V95.3.921.003k17_921_929","article-title":"Molecular mechanisms of platelet exocytosis: role of SNAP\u201023 and syntaxin 2 in dense core granule release","volume":"95","author":"Chen D.","year":"2000","journal-title":"Blood"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni1000"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.009"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2004.0171.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.2.323"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804303381803"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1995.tb08901.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164303"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1990.00118.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-12-4330"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2010.090425"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.20.10.2233"},{"key":"e_1_2_7_19_1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1182\/blood.V61.1.154.154","article-title":"Thrombin and ionophore a23187\u2010induced dense granule secretion in storage pool deficient platelets: evidence for impaired nucleotide storage as the primary dense granule defect","volume":"61","author":"Lages B.","year":"1983","journal-title":"Blood"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301294200"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2010.01571.x"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1309\/3KRYCPNAPDTVFWGY"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/499338"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-108-1-65"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V70.3.620.620"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2012.02856.x"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-300"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1086\/301757"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V100.3.1081"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M307864200"},{"key":"e_1_2_7_32_1","first-page":"619","article-title":"Platelet ultrastructural morphometry for diagnosis of partial delta\u2010storage pool disease in patients with mild platelet dysfunction and\/or thrombocytopenia of unknown origin. 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