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A Dominant-Negative GFI1BMutation in Gray Platelet Syndrome
- Source :
- Blood; November 2013, Vol. 122 Issue: 21 pLBA-3-LBA-3
- Publication Year :
- 2013
-
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.
Details
- Language :
- English
- ISSN :
- 00064971 and 15280020
- Volume :
- 122
- Issue :
- 21
- Database :
- Supplemental Index
- Journal :
- Blood
- Publication Type :
- Periodical
- Accession number :
- ejs57105974
- Full Text :
- https://doi.org/10.1182/blood.V122.21.LBA-3.LBA-3