blood platelet disorders


Summary: Disorders caused by abnormalities in platelet count or function.

Top Publications

  1. Hayward C, Rao A, Cattaneo M. Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment. Haemophilia. 2006;12 Suppl 3:128-36 pubmed
    ..Presently, there are a number of choices to consider for the management of bleeding symptoms, including menorrhagia. This paper reviews the causes, diagnostic evaluation and therapies for common and rare congenital platelet disorders. ..
  2. Heller P, Glembotsky A, Gandhi M, Cummings C, Pirola C, Marta R, et al. Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood. 2005;105:4664-70 pubmed
    ..In conclusion, we identified a C-terminal AML1 mutation that leads to a decrease in Mpl receptor expression, providing a potential explanation for thrombocytopenia in this FPD/AML pedigree. ..
  3. Bluteau D, Lordier L, Di Stefano A, Chang Y, Raslova H, Debili N, et al. Regulation of megakaryocyte maturation and platelet formation. J Thromb Haemost. 2009;7 Suppl 1:227-34 pubmed publisher
    ..This review focuses on MK polyploidization, and platelet formation, and discusses their alteration in some platelet disorders. ..
  4. Watson S, Lowe G, Lordkipanidzé M, Morgan N. Genotyping and phenotyping of platelet function disorders. J Thromb Haemost. 2013;11 Suppl 1:351-63 pubmed publisher
    ..Mucocutaneous bleeding is a complex trait, and this has important implications for NGS in the assessment of a PFD. ..
  5. Bluteau D, Glembotsky A, Raimbault A, Balayn N, Gilles L, Rameau P, et al. Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression. Blood. 2012;120:2708-18 pubmed
    ..Together, these results demonstrate that the defects in megakaryopoiesis observed in FPD/AML are, in part, related to a deregulation of myosin IIA and IIB expression leading to both a defect in ploidization and proplatelet formation. ..
  6. Tauer J, Gneuss A, Lohse J, Jurgens T, Knofler R. Evaluation of desmopressin effect on primary haemostasis in pediatric patients with aspirin-like defect as hereditary thrombocytopathy. Klin Padiatr. 2011;223:169-72 pubmed publisher
    ..For the evaluation of the clinical effect of DDAVP administration in patients with aspirin-like defect the investigation of a larger group of patients is needed. ..
  7. Canobbio I, Noris P, Pecci A, Balduini A, Balduini C, Torti M. Altered cytoskeleton organization in platelets from patients with MYH9-related disease. J Thromb Haemost. 2005;3:1026-35 pubmed
  8. Dawood B, Lowe G, Lordkipanidzé M, Bem D, Daly M, Makris M, et al. Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel. Blood. 2012;120:5041-9 pubmed publisher
    ..We further demonstrate that most PFDs can be reliably diagnosed using a streamlined panel of key platelet agonists and specified concentrations suitable for testing in most clinical diagnostic laboratories. ..
  9. Cattaneo M. The P2 receptors and congenital platelet function defects. Semin Thromb Hemost. 2005;31:168-73 pubmed
    ..The localization of both mutations in TM6 and EL3 identifies this region of P2Y (12) as a structurally and functionally critical region of the receptor. ..

More Information


  1. Marcus P, Nire K, Grooms L, Klima J, O Brien S. The power of a standardized bleeding score in diagnosing paediatric type 1 von Willebrand's disease and platelet function defects. Haemophilia. 2011;17:223-7 pubmed publisher
    ..The Vicenza score has limited predictive value in paediatric tertiary care settings. While the NPV of excluding 'definite type 1 VWD' is high, simpler qualitative criteria is similarly predictive. ..
  2. Hayward C. Diagnostic approach to platelet function disorders. Transfus Apher Sci. 2008;38:65-76 pubmed publisher
    ..Tests for aggregation, secretion and dense granule defects continue to be the most helpful for the evaluation of suspected platelet function disorders. ..
  3. Ramasamy I. Inherited bleeding disorders: disorders of platelet adhesion and aggregation. Crit Rev Oncol Hematol. 2004;49:1-35 pubmed
    ..As progress advances towards individualisation of therapy the phenotypic bleeding tendency of each patient becomes relevant. ..
  4. Cattaneo M. Light transmission aggregometry and ATP release for the diagnostic assessment of platelet function. Semin Thromb Hemost. 2009;35:158-67 pubmed publisher
  5. Quiroga T, Goycoolea M, Panes O, Aranda E, Martinez C, Belmont S, et al. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls. Haematologica. 2007;92:357-65 pubmed
    ..Our results support the proposal that low plasma VWF levels, but also platelet function defects, should be considered risk factors rather than unequivocal causes of hemorrhages. ..
  6. Philipp C, Dilley A, Miller C, Evatt B, Baranwal A, Schwartz R, et al. Platelet functional defects in women with unexplained menorrhagia. J Thromb Haemost. 2003;1:477-84 pubmed
    ..We conclude that the prevalence of platelet function defects and other inherited bleeding disorders is substantial in a multiracial US population of women with unexplained menorrhagia. ..
  7. Knofler R, Olivieri M, Weickardt S, Eberl W, Streif W. [First results of the THROMKID study: a quality project for the registration of children und adolescents with hereditary platelet function defects in Germany, Austria, and Switzerland]. Hamostaseologie. 2007;27:48-53 pubmed
  8. Hayward C. Diagnostic evaluation of platelet function disorders. Blood Rev. 2011;25:169-73 pubmed publisher
    ..Nonetheless, there is need to further evaluate the features, pathogenesis and genetic cause of many platelet function disorders, including the inherited conditions that impair granule secretion. ..
  9. Owen C, Toze C, Koochin A, Forrest D, Smith C, Stevens J, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008;112:4639-45 pubmed publisher
    ..Therefore, it would appear prudent to screen young patients with MDS/AML for RUNX1 mutation, before consideration of sibling hematopoietic stem cell transplantation. ..
  10. Boccardo P, Remuzzi G, Galbusera M. Platelet dysfunction in renal failure. Semin Thromb Hemost. 2004;30:579-89 pubmed
    ..Platelets are also involved directly in the pathogenesis of glomerular diseases through a variety of mechanisms, including release of active molecules, by enhancing immune complex deposition, and by altering glomerular permeability. ..
  11. Hayward C, Pai M, Liu Y, Moffat K, Seecharan J, Webert K, et al. Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments. J Thromb Haemost. 2009;7:676-84 pubmed publisher
    ..LTA is valuable for detecting platelet function abnormalities among individuals referred for bleeding problems, particularly when the test indicates abnormal responses to multiple agonists. ..
  12. Nurden A. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost. 2005;3:1773-82 pubmed
  13. Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, et al. Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases. Thromb Haemost. 2003;90:893-7 pubmed
    ..In summary, this study documents ten new cases of PTS with characteristic alpha-granule abnormalities, and shows the putative pathogenic role of fli-1 gene in the pathophysiology of this syndrome. ..
  14. Podda G, Femia E, Pugliano M, Cattaneo M. Congenital defects of platelet function. Platelets. 2012;23:552-63 pubmed
    ..Fibrinolytic inhibitors or the vasopressin analogue desmopressin (DDAVP) should be used in all other circumstances. ..
  15. Israels S, Kahr W, Blanchette V, Luban N, Rivard G, Rand M. Platelet disorders in children: A diagnostic approach. Pediatr Blood Cancer. 2011;56:975-83 pubmed publisher
    ..Based on results of initial investigations, the algorithm recommends specialized testing for specific diagnoses, including flow cytometry, immunofluorescence microscopy, electron microscopy, and mutational analysis. ..
  16. Pang L, Weiss M, Poncz M. Megakaryocyte biology and related disorders. J Clin Invest. 2005;115:3332-8 pubmed
    ..It is anticipated that the growing knowledge in these areas may be exploited for new therapeutic strategies to modulate both platelet numbers and their thrombogenicity. ..
  17. Yaguchi A, Lobo F, Vincent J, Pradier O. Platelet function in sepsis. J Thromb Haemost. 2004;2:2096-102 pubmed
    ..These results suggest that sepsis alters the hemostatic function of the platelets and increases VEGF release in a thrombin-independent manner. ..
  18. Gunay Aygun M, Huizing M, Gahl W. Molecular defects that affect platelet dense granules. Semin Thromb Hemost. 2004;30:537-47 pubmed
    ..The gene products involved in these disorders help elucidate the generalized process of the formation of vesicles from extant membranes such as the Golgi. ..
  19. Tosetto A, Castaman G, Plug I, Rodeghiero F, Eikenboom J. Prospective evaluation of the clinical utility of quantitative bleeding severity assessment in patients referred for hemostatic evaluation. J Thromb Haemost. 2011;9:1143-8 pubmed publisher
  20. Israels S. Diagnostic evaluation of platelet function disorders in neonates and children: an update. Semin Thromb Hemost. 2009;35:181-8 pubmed publisher
    ..The majority of these studies, comparing normal children with adults, found only minor differences in platelet responses measured by these assays. ..
  21. Cattaneo M. Inherited platelet-based bleeding disorders. J Thromb Haemost. 2003;1:1628-36 pubmed
    ..The literature on these disorders is reviewed, and the underlying defects discussed. ..
  22. Hirata T, Kakizuka A, Ushikubi F, Fuse I, Okuma M, Narumiya S. Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. J Clin Invest. 1994;94:1662-7 pubmed
    ..These results suggest that the Arg60 to Leu mutation is responsible for the disorder. Moreover, dominant inheritance of the disorder suggests the possibility that the mutation produces a dominant negative TXA2 receptor. ..
  23. Di Pumpo M, Noris P, Pecci A, Savoia A, Seri M, Ceresa I, et al. Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica. 2002;87:943-7 pubmed
    ..This defect could contribute to the bleeding tendency of these patients. The identification of a GPIb/IX/V defect in MHA-SBS platelets raises the question of the differential diagnosis from heterozygous Bernard-Soulier syndrome. ..
  24. Mannucci P, Cattaneo M, Canciani M, Maniezzo M, Vaglini M, Cascinelli N. Early presence of activated ('exhausted') platelets in malignant tumors (breast adenocarcinoma and malignant melanoma). Eur J Cancer Clin Oncol. 1989;25:1413-7 pubmed
    ..Our data indicate that the presence of exhausted platelets is an early finding in patients with malignant tumors. ..
  25. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000;26:103-5 pubmed
    ..Thus, our results suggest that mutations in MYH9 result in three megakaryocyte/platelet/leukocyte syndromes and are important in the pathogenesis of sensorineural deafness, cataracts and nephritis. ..
  26. Michaud J, Wu F, Osato M, Cottles G, Yanagida M, Asou N, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood. 2002;99:1364-72 pubmed
  27. Cattaneo M, Lecchi A, Lombardi R, Gachet C, Zighetti M. Platelets from a patient heterozygous for the defect of P2CYC receptors for ADP have a secretion defect despite normal thromboxane A2 production and normal granule stores: further evidence that some cases of platelet 'primary secretion defect' are he. Arterioscler Thromb Vasc Biol. 2000;20:E101-6 pubmed
  28. Hyman T, Huizing M, Blumberg P, Falik Zaccai T, Anikster Y, Gahl W. Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome. Br J Haematol. 2003;122:142-9 pubmed
  29. Boudreaux M, Schmutz S, French P. Calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) gene mutations in a thrombopathic Simmental calf. Vet Pathol. 2007;44:932-5 pubmed
    ..This change is likely responsible for the thrombopathic phenotype observed in Simmental cattle and underscores the critical nature of this signal transduction protein in platelets. ..
  30. Webb D, Parker L, Webb K. Platelet count assessment from peripheral blood smear (PBS). Alaska Med. 2004;46:92-5 pubmed
    ..Average in 10 high-power field on a blood film microscopically and multiplying by 15,000 gives a platelet count reasonably close to automated machine counts in thousands per microliter. ..
  31. Aledort L. Platelet bleeding disorders and approach to their management. Curr Hematol Rep. 2005;4:85-7 pubmed
  32. White J, Brunning R. Neutrophils in the gray platelet syndrome. Platelets. 2004;15:333-40 pubmed
    ..The patients described in the recent report by the French workers appear to have a familial hypogranular neutrophil and platelet disorder, but it does not appear to be the GPS. ..
  33. Wilcox D, White G. Gene therapy for platelet disorders: studies with Glanzmann's thrombasthenia. J Thromb Haemost. 2003;1:2300-11 pubmed
  34. Fallahi P, Katz R, Toma I, Li R, Reiner J, Vanhouten K, et al. Aspirin insensitive thrombophilia: transcript profiling of blood identifies platelet abnormalities and HLA restriction. Gene. 2013;520:131-8 pubmed publisher
    ..Future studies will focus on determining the protein levels of these differential transcripts in platelets, and the possible involvement of HLA restriction as a contributing factor. ..
  35. Lordkipanidzé M, Lowe G, Kirkby N, Chan M, Lundberg M, Morgan N, et al. Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay. Blood. 2014;123:e11-22 pubmed publisher
    ..This trial was registered at as #ISRCTN 77951167. ..
  36. Hayward C, Harrison P, Cattaneo M, Ortel T, Rao A. Platelet function analyzer (PFA)-100 closure time in the evaluation of platelet disorders and platelet function. J Thromb Haemost. 2006;4:312-9 pubmed
  37. Nesin V, Wiley G, Kousi M, Ong E, Lehmann T, Nicholl D, et al. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014;111:4197-202 pubmed publisher
  38. Fricke W, Kouides P, Kessler C, Schmaier A, Krijanovski Y, Jagadeesan K, et al. A multicenter clinical evaluation of the Clot Signature Analyzer. J Thromb Haemost. 2004;2:763-8 pubmed
    ..Of 116 normal subjects, 103 (89%) fell within the centers' normal range. These data suggest that the CSA has a good sensitivity for bleeding disorders. ..
  39. Chi C, Pollard D, Tuddenham E, Kadir R. Menorrhagia in adolescents with inherited bleeding disorders. J Pediatr Adolesc Gynecol. 2010;23:215-22 pubmed publisher
    ..We reviewed the management and treatment outcomes of menorrhagia in adolescents with inherited bleeding disorders and assessed the impact of menorrhagia on their quality of life...
  40. Stella M, Bailey A. Intranasal clonidine as a premedicant: three cases with unique indications. Paediatr Anaesth. 2008;18:71-3 pubmed
    ..One patient was given clonidine as a premedicant. The third patient was treated for preoperative agitation and hypertension. All three patients had subjective resolution of indicated symptoms and none experienced adverse outcomes. ..
  41. Lambert M, Sullivan S, Fuentes R, French D, Poncz M. Challenges and promises for the development of donor-independent platelet transfusions. Blood. 2013;121:3319-24 pubmed publisher
  42. Akay O, Mutlu F, Gulbas Z. Platelet dysfunction and other hemostatic disorders in women with menorrhagia: the utility of whole blood lumi-aggregometer. Intern Emerg Med. 2008;3:191-3 pubmed publisher
  43. Ishihara Y. [Selectin family (E-selectin, P-selectin, L-selectin)]. Nihon Rinsho. 2005;63 Suppl 8:146-50 pubmed
  44. Vladareanu A, Popov V, Bumbea H, Ciufu C, Vasilache V, Petre A, et al. [Pathogenesis of thrombotic and hemorrhagic complications in myeloproliferative and myelodysplastic syndromes]. Rev Med Chir Soc Med Nat Iasi. 2011;115:14-9 pubmed
    ..It was also described the acquired von Willebrand syndrome, most frequently type 2. ..
  45. Lobo V, Shetty S, Kulkarni B, Butera D, Magalhães G, Ghosh K. A novel ELISA for diagnosis of Glanzmann's thrombasthenia and the heterozygote carriers. Ann Hematol. 2012;91:917-21 pubmed publisher
  46. Rao A. Inherited defects in platelet signaling mechanisms. J Thromb Haemost. 2003;1:671-81 pubmed
  47. Burke N, Flood K, Muellers S, Murray A, Dunne E, COTTER B, et al. Reduced spontaneous platelet aggregation: a novel risk factor for adverse pregnancy outcome. Eur J Obstet Gynecol Reprod Biol. 2016;199:132-6 pubmed publisher
    ..Further studies should be carried out to asses if spontaneous platelet aggregation may be a clinically useful tool for the prediction of pre-eclampsia and IUGR. ..
  48. Favaloro E. Investigating people with mucocutaneous bleeding suggestive of primary hemostatic defects: a low likelihood of a definitive diagnosis?. Haematologica. 2007;92:292-6 pubmed
  49. Harrison P. Platelet function analysis. Blood Rev. 2005;19:111-23 pubmed
    ..This review will highlight some of these of new tests/instruments and discuss their potential utility both within the haemostasis laboratory but also as potential point of care instruments. ..
  50. Burduli N, Aksenova I. [Platelet aggregatory impairments in chronic obstructive bronchitis and a role of laser therapy in their correction]. Klin Med (Mosk). 2004;82:34-7 pubmed
    ..In the control group, conventional drug therapy caused no substantial changes in platelet aggregatory function. Thus, intravenous blood laser irradiation is an effective technique in correcting thrombocytic dysfunction in COB. ..
  51. Strauss T, Sidlik Muskatel R, Kenet G. Developmental hemostasis: primary hemostasis and evaluation of platelet function in neonates. Semin Fetal Neonatal Med. 2011;16:301-4 pubmed publisher
    ..This article reviews platelet function, assessed by various techniques, and its development in the premature as well as healthy term neonate. ..
  52. Sabbagh A, Taher A, Zaatari G, Mahfouz R. Gene frequencies of the HPA-1 platelet antigen alleles in the Lebanese population. Transfus Med. 2007;17:473-8 pubmed
    ..This report is the first to study the prevalence of the HPA-1 system in the Lebanese population and serves as a template for future clinical research involving platelet disorders and cardiovascular diseases. ..
  53. Makarova E, Tarasenko S, Melikyan A, Ponomarenko A. [Erbium laser application for oral surgery in patients with platelet hemostatic disorders]. Stomatologiia (Mosk). 2017;96:29-32 pubmed publisher