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Platelet proteome and function in X-linked thrombocytopenia with thalassemia and in silico comparisons with gray platelet syndrome
Örebro universitet, Institutionen för medicinska vetenskaper. Region Örebro län. Department of Medicine.ORCID-id: 0000-0002-1906-0746
Örebro universitet, Institutionen för medicinska vetenskaper. Department of Clinical Chemistry, and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden. (Cardiovascular Research Centre)ORCID-id: 0000-0002-1920-3962
Örebro universitet, Institutionen för medicinska vetenskaper. (Cardiovascular Research Centre)ORCID-id: 0000-0002-5025-9454
Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm.
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2021 (Engelska)Ingår i: Haematologica, ISSN 0390-6078, E-ISSN 1592-8721, Vol. 106, nr 11, s. 2947-2959Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

In X-linked thrombocytopenia with thalassemia (XLTT; OMIM 314050), caused by the mutation p.R216Q in exon 4 of the GATA1 gene, male hemizygous patients display macrothrombocytopenia, bleeding diathesis and a β-thalassemia trait. Herein, we describe findings in two unrelated Swedish XLTT families with a bleeding tendency exceeding what is expected from the thrombocytopenia. Blood tests revealed low P-PAI-1 and P-factor 5, and elevated S-thrombopoietin levels. Transmission electron microscopy showed diminished numbers of platelet α- and dense granules. The proteomes of isolated blood platelets from 5 male XLTT patients, compared to 5 gender- and age matched controls, were explored. Quantitative mass spectrometry showed alterations of 83 proteins (fold change ≥±1.2, q< .05). Of 46 downregulated proteins, 39 were previously reported to be associated with platelet granules. Reduced protein levels of PTGS1 and SLC35D3 were validated in megakaryocytes of XLTT bone marrow biopsies by immunohistochemistry. Platelet function testing by flow cytometry revealed low dense- and α-granule release and fibrinogen binding in response to ligation of receptors for ADP, the thrombin receptor PAR4 and the collagen receptor GPVI. Significant reductions of a number of α-granule proteins overlapped with a previous platelet proteomics investigation in the inherited macrothrombocytopenia gray platelet syndrome (GPS). In contrast, Ca2+ transporter proteins that facilitate dense granule release were downregulated in XLTT but upregulated in GPS. Ingenuity Pathway Analysis showed altered Coagulation System and Protein Ubiquitination pathways in the XLTT platelets. Collectively, the results revealed protein and functional alterations affecting platelet α- and dense granules in XLTT, probably contributing to bleeding.

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Ferrata Storti Foundation, 2021. Vol. 106, nr 11, s. 2947-2959
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Biokemi Molekylärbiologi
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URN: urn:nbn:se:oru:diva-86784DOI: 10.3324/haematol.2020.249805ISI: 000715742000018PubMedID: 33054111Scopus ID: 2-s2.0-85093539442OAI: oai:DiVA.org:oru-86784DiVA, id: diva2:1479183
Forskningsfinansiär
Region Örebro län, OLL-158661; OLL-164431; OLL-239301; OLL-255251; OLL-268261Tillgänglig från: 2020-10-26 Skapad: 2020-10-26 Senast uppdaterad: 2025-02-20Bibliografiskt granskad

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Bergemalm, DanielRamström, SofiaKardeby, CarolineGöthlin Eremo, AnnaÅström, Maria

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Bergemalm, DanielRamström, SofiaKardeby, CarolineGöthlin Eremo, AnnaÅström, Maria
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