Spontaneous platelet aggregation with congenital giant platelet containing large granules and thick membrane.
Inherited giant platelet disorders are a heterogeneous group of disorders. In the current study, a patient was reported with moderate bleeding tendency, giant platelets, and spontaneous platelet aggregation, which were not affected by the administration of aspirin or ticlopidine. The electron microscopy of platelets showed a black and thick plasma membrane with crystal-like fine hairs in the exterior coat and more large and variously shaped granules in the cytoplasm. The expression of glycoprotein (GP) Ib, GP IIb, and GP IIIa on platelet surface was normal, and no mutations in genes for GP Ib alpha, GP Ib beta, and GP IX were detected. These phenomena are so distinguishable from those of Mondreal platelet syndrome and other hereditary giant platelet disorders, that we propose that this patient probably has a novel platelet disorder, which has not yet been reported.
Wang
Z
Z
Jiangsu Institute of Hematology, The First Affiliated Hospital of Suzhou University, China. w950831@public1.sz.js.cn
Shi
J
J
Han
Y
Y
Wang
Y
Y
Ruan
C
C
D001791:Blood Platelet Disorders / Q000097:blood / Q000151:congenital* / Q000473:pathology; D001792:Blood Platelets / Q000473:pathology* / Q000648:ultrastructure*; D002462:Cell Membrane / Q000473:pathology / Q000648:ultrastructure; D048429:Cell Size; D002648:Child; D003594:Cytoplasmic Granules / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D010974:Platelet Aggregation / Q000502:physiology*; D010980:Platelet Membrane Glycoproteins / Q000032:analysis; D013577:Syndrome
D010980:Platelet Membrane Glycoproteins