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

Platelets
Peter BugertTamam Bakchoul

Abstract

Chronic hemorrhagic diathesis in patients showing normal levels of plasmatic clotting factors strongly suggests for congenital platelet disorders. We report on a pediatric patient (male, 3 years, D1) with mild bleeding. A sibling (D2), his mother (D3) and father (D4) were included for laboratory investigation. Platelet counts in D1, D2 and D4 indicated mild thrombocytopenia (100 Gpt/L). D1 and D3 platelets showed significantly diminished aggregation response on arachidonic acid and U46619 stimulation. Immunostaining for platelet proteins on blood smears of D1 and D2 indicated defects in ß1-tubulin. Exon sequencing of TBXA2R and TUBB1 revealed heterozygosity for the novel TBXA2R*c.908T>C (p.L303P) mutation in D1 and D3. TUBB1 was either wild type (D2, D3) or heterozygous (D1, D4) for the common polymorphism TUBB1*c.920G>A (rs6070697; p.R307H). In conclusion, the bleeding phenotype of the index patient can be explained by a diminished platelet function caused by the TBXA2R*c.908T>C mutation inherited from the mother and a mild thrombocytopenia with unknown molecular basis that is inherited from the father.

References

Oct 22, 2004·Seminars in Thrombosis and Hemostasis·A Koneti RaoLiansheng Sun
Nov 17, 2006·British Journal of Haematology·Paula H B Bolton-MaggsUNKNOWN UKHCDO
Jan 15, 2013·Current Protocols in Human Genetics·Ivan AdzhubeiShamil R Sunyaev
Nov 30, 2013·British Journal of Haematology·Alan T Nurden, Paquita Nurden
May 31, 2015·Methods in Molecular Biology·Gabriele RinkPeter Bugert
Jan 16, 2018·Platelets·Kate BurleyAndrew D Mumford
Aug 9, 2018·Platelets·Stuart James Mundell, Andrew Mumford
Oct 30, 2018·Nucleic Acids Research·Philipp RentzschMartin Kircher
Jun 30, 2019·TH Open : Companion Journal to Thrombosis and Haemostasis·Oliver AndresUNKNOWN THROMKIDplus Study Group of the Society of Paediatric Oncology Haematology (Gesellschaft für Pädiatrische Onkologie und Häma

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Citations

Mar 18, 2020·Journal of Clinical Medicine·Marie-Christine AlessiBernard Payrastre

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