{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T15:23:04Z","timestamp":1717773784188},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,10,7]],"date-time":"2015-10-07T00:00:00Z","timestamp":1444176000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Mutations of nonmuscle myosin heavy chain 9 (MYH9) gene are an autosomal dominant cause of inherited thrombocytopenia in children. MYH9 spectrum disorders include May\u2010Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes. Patients with these disorders often present with macroplatelets and thrombocytopenia and have a mild bleeding tendency; extrahematologic manifestations (nephropathy, deafness, and cataracts) correlate with specific mutations. No definitive guidelines exist for preoperative prophylactic platelet (PLT) transfusion in these patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>STUDY DESIGN AND METHODS<\/jats:title><jats:p>This was a case study and literature review.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>A 6\u2010year\u2010old male presented with appendicitis. Review of records revealed that he and his siblings had thrombocytopenia; polymerase chain reaction amplification with DNA sequence analysis showed a variation in the MYH9 gene previously reported as a known cause of MYH9\u2010related disorders. Involvement of other organ systems was not found on initial work\u2010up. The patient's PLT count on admission was 20 \u00d7 10<jats:sup>9<\/jats:sup>\/L. The degree of thrombocytopenia prompted transfusion of apheresis PLTs and he had good response (73 \u00d7 10<jats:sup>9<\/jats:sup>\/L). After infusion he developed hives, rash, itching, and nausea, which resolved after administration of epinephrine and hydrocortisone. Transfusion reaction work\u2010up was negative and symptoms were interpreted as an allergic reaction. The appendectomy was uneventful.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>This patient's PLT count was within guidelines to warrant transfusion; however, some patients with MYH9 mutations have counts above the transfusion threshold. To the authors\u2019 knowledge, there are no set guidelines for preoperative prophylaxis in a patient with an MYH9 deficiency. The management of the bleeding diathesis in these patients, especially in the setting of invasive procedures, is uncertain.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.13366","type":"journal-article","created":{"date-parts":[[2015,10,8]],"date-time":"2015-10-08T04:42:36Z","timestamp":1444279356000},"page":"349-353","source":"Crossref","is-referenced-by-count":3,"title":["Preoperative use of platelets in a 6\u2010year\u2010old with acute appendicitis and a myosin heavy chain 9\u2013related disorder: a case report and review of literature"],"prefix":"10.1111","volume":"56","author":[{"given":"Yekaterina","family":"Eichel","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Medical University of South Carolina Charleston South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee Marie","family":"Tormos","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Medical University of South Carolina Charleston South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerry E.","family":"Squires","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Medical University of South Carolina Charleston South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,7]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"CountreS.Congenital and acquired disorders of platelet function [Internet]. In: Leung L editor. Waltham (MA): UpToDate; c2015 [cited2015]. 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