Advanced search
Publication Cover
Platelets Volume 31, 2020 - Issue 2
Submit an article Journal homepage
321
Views
3
CrossRef citations to date
0
Altmetric
Case Reports

Platelet dysfunction caused by a novel thromboxane A2 receptor mutation and congenital thrombocytopenia in a case of mild bleeding

Peter BugertInstitute of Transfusion Medicine and Immunology, Heidelberg University, Medical Faculty Mannheim, German Red Cross Blood Service of Baden-Württemberg – Hessen gGmbH, Mannheim, GermanyCorrespondence[email protected]
,
Lars FischerDepartment of Pediatric Hematology/Oncology/Hemostaseology, Children’s Hospital, Leipzig University, Leipzig, Germany
,
Karina AlthausTransfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany
,
Ralf KnöflerDepartment of Pediatric Haemostaseology, Medical Faculty Carl Gustav Carus of Technical University Dresden, Dresden, Germany
&
Tamam BakchoulTransfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany;Transfusion Medicine, Medical Faculty of Tübingen, Tübingen, Germany
Pages 276-279 | Received 29 Jul 2019, Accepted 30 Jul 2019, Published online: 07 Aug 2019

References

  • Nurden AT, Nurden P. Congenital platelet disorders and understanding of platelet function. Br J Haematol 2014;1652:165–178. doi: 10.1111/bjh.12662
  • Burley K, Westbury SK, Mumford AD. TUBB1 variants and human platelet traits. Platelets 2018;292:209–211. doi: 10.1080/09537104.2017.1411587
  • Rao AK, Jalagadugula G, Sun L. Inherited defects in platelet signaling mechanisms. Semin Thromb Hemost 2004;305:525–535. doi: 10.1055/s-2004-835673
  • Bolton-Maggs PH, Chalmers EA, Collins PW, Harrison P, Kitchen S, Liesner RJ, Minford A, Mumford AD, Parapia LA, Perry DJ, et al.UKHCDO. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 2006;1355:603–633. doi: 10.1111/j.1365-2141.2006.06343.x
  • Rolf N, Knoefler R, Bugert P, Gehrisch S, Siegert G, Kuhlisch E, Suttorp M. Clinical and laboratory phenotypes associated with the aspirin-like defect: a study in 17 unrelated families. Br J Haematol 2009;1443:416–424. doi: 10.1111/j.1365-2141.2008.07468.x
  • Mundell SJ, Mumford A. TBXA2R gene variants associated with bleeding. Platelets 2018;297:739–742. doi: 10.1080/09537104.2018.1499888
  • Cattaneo M, Cerletti C, Harrison P, Hayward CP, Kenny D, Nugent D, Nurden P, Rao AK, Schmaier AH, Watson SP, et al. Recommendations for the standardization of light transmission aggregometry: a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH. J Thromb Haemost 2013;116:1183–1189. doi: 10.1111/jth.12231
  • Greinacher A, Pecci A, Kunishima S, Althaus K, Nurden P, Balduini CL, Bakchoul T. Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders. J Thromb Haemost 2017;157:1511–1521. doi: 10.1111/jth.13729
  • Rink G, Scharberg EA, Bugert P. PCR with sequence-specific primers for typing of diallelic blood groups. Methods Mol Biol 2015;1310:71–81. doi: 10.1007/978-1-4939-2690-9_6
  • Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): national center for biotechnology information, national library of medicine. (dbSNP build ID: 146). [cited 2019 Jan]; Available from: http://www.ncbi.nlm.nih.gov/SNP.
  • Genome Aggregation Database (gnomAD). [cited 2019 Jan]; Available from: http://gnomad.broadinstitute.org.
  • PolyPhen 2 prediction of functional effects of human nsSNP. [cited 2019 Feb 25]; Available from: http://genetics.bwh.harvard.edu/pph2.
  • PROVEAN (Protein Variation Effect Analyzer) software tool. [cited 2019 Feb 25]; Available from: http://provean.jcvi.org/index.php
  • MutationTaster. [cited 2019 Feb 25]; Available from: http://www.mutationtaster.org.
  • Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res 2019;47D1: D886–D894. doi: 10.1093/nar/gky1016
  • Mumford AD, Dawood BB, Daly ME, Murden SL, Williams MD, Protty MB, Spalton JC, Wheatley M, Mundell SJ, Watson SP. A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood 2010;1152:363–369. doi: 10.1182/blood-2009-08-236976
  • Andres O, König EM, Althaus K, Bakchoul T, Bugert P, Eber S, Knöfler R, Kunstmann E, Manukjan G, Meyer O, et al. THROMKIDplus study group of the society of paediatric oncology haematology (Gesellschaft für Pädiatrische Onkologie und Hämatologie, GPOH) and the society of thrombosis haemostasis research (Gesellschaft für Thrombose- und Hämostaseforschung, GTH). Use of targeted high-throughput sequencing for genetic classification of patients with bleeding diathesis and suspected platelet disorder. TH Open 2018;2:e445–e454. doi: 10.1055/s-0038-1676813

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.