{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T02:50:51Z","timestamp":1780541451581,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T00:00:00Z","timestamp":1712620800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC 28\/2022"],"award-info":[{"award-number":["RC 28\/2022"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>ACTN1<\/jats:italic>\u2010related thrombocytopenia is a rare disorder caused by heterozygous variants in the <jats:italic>ACTN1<\/jats:italic> gene characterized by macrothrombocytopenia and mild bleeding tendency. We describe for the first time two patients affected with <jats:italic>ACTN1<\/jats:italic>\u2010RT caused by a homozygous variant in <jats:italic>ACTN1<\/jats:italic> (c.982G&gt;A) with mild heart valve defects unexplained by any other genetic variants investigated by WES. Within the reported family, the homozygous sisters have moderate thrombocytopenia and marked platelet macrocytosis with giant platelets, revealing a more severe haematological phenotype compared to their heterozygous relatives and highlighting a significant effect of allelic burden on platelet size. Moreover, we hypothesize that some <jats:italic>ACTN1<\/jats:italic> variants, especially when present in the homozygous state, may also contribute to the cardiac abnormalities.<\/jats:p>","DOI":"10.1111\/bjh.19457","type":"journal-article","created":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T00:54:04Z","timestamp":1712710444000},"page":"2453-2457","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<i>ACTN1<\/i>\u2010related thrombocytopenia: Homozygosity for an <i>ACTN1<\/i> variant results in a more severe phenotype"],"prefix":"10.1111","volume":"204","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2113-3596","authenticated-orcid":false,"given":"Melania Eva","family":"Zanchetta","sequence":"first","affiliation":[{"name":"Institute for Maternal and Child Health, IRCCS Burlo Garofolo  Trieste 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