학술논문
A Dominant-Negative GFI1BMutation in Gray Platelet Syndrome
Document Type
Article
Author
Van der Reijden, Bert A.; Monteferrario, Davide; Bolar, Nikhita; Marneth, Anna; Hebeda, Konnie; Bergevoet, Saskia; Veenstra, Hans; Gorkum, Britta Laros-van; MacKenzie, Marius; Khandanpour, Cyrus; Botezatu, Lacramioara; Fransen, Erik; Van Camp, Guy; Duijnhouwer, Anthonie; Salemink, Simone; Willemsen, Brigith; Huls, Gerwin; Preijers, Franks; van Heerde, Waander L.; Jansen, Joop H.; Kempers, Marlies; Loeys, Bart; Van Laer, Lut
Source
Blood; November 2013, Vol. 122 Issue: 21 pLBA-3-LBA-3
Subject
Language
ISSN
00064971; 15280020
Abstract
Gray platelet syndrome (GPS) is a hereditary, usually autosomal recessive bleeding disorder caused by defective production of α-granules in platelets. GPS patients show reduced numbers of platelets that are larger and have a typical gray appearance under light microscopy, caused by the lack of α-granules. We describe a large family with an autosomal dominant type of GPS characterized by mild to severe bleeding complications. In addition to large gray platelets, other GPS-associated phenomena like myelofibrosis, thrombocytopenia, and low platelet factor 4 expression were observed in affected individuals. Histopathological examination of a BM biopsy from a patient showed a cellular marrow with increased numbers of megakaryocytes that were pleomorphic in size and shape. Megakaryocytes clustered along BM sinuses and showed dysmorphic stretched features.