title: Alpha-delta platelet storage pool deficiency in three generations.
abstract: Alpha-Delta platelet storage pool deficiency (alphadelta SPD) is a rare inherited bleeding disorder affecting both males and females, occurring in families, as well as sporadically. Patient platelets in most cases are moderately deficient in both alpha granules and dense bodies. Only one patient has been severely deficient in both organelles. The present study is the first to document a severe decrease in both platelet alpha granules and dense bodies in four members in three generations of the same family. Efforts to differentiate this disorder from other hypogranular platelets syndromes in the present investigation suggested that the alpha granules and dense bodies become connected to channels of the open canalicular system (OCS) and lose their contents to the exterior without prior activation of the cells. In contrast, alpha granule formation in the white platelet syndrome is too slow, and cells leave the bone marrow still in the process of producing organelles. Gray platelet syndrome platelets can make alpha granules, but their enclosing membranes are unable to retain stored products. As a result, the organelles lose their contents to surrounding cytoplasm in megakaryocytes and platelets, not selectively through the demarcation system channels and OCS channels. Thus, the pathogenesis of alphadelta SPD is unique.
authors: Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA. white003@umn.edu
authors: James G
authors: JG
authors: White
authors: Sioban
authors: S
authors: Keel
authors: Morayma
authors: M
authors: Reyes
authors: Steven M
authors: SM
authors: Burris
mesh_terms: D001792:Blood Platelets / Q000201:enzymology / Q000378:metabolism / Q000648:ultrastructure*; D004396:Coloring Agents / Q000032:analysis; D005260:Female; D019276:Glycocalyx / Q000648:ultrastructure; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008533:Megakaryocytes / Q000473:pathology; D008595:Menorrhagia / Q000209:etiology; D008954:Models, Biological; D009992:Osmium / Q000032:analysis; D009195:Peroxidase / Q000097:blood; D010981:Platelet Storage Pool Deficiency / Q000097:blood / Q000150:complications / Q000235:genetics*; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics*; D011693:Purpura / Q000209:etiology; D022142:Secretory Vesicles / Q000648:ultrastructure
chemical_list: D004396:Coloring Agents; D009992:Osmium; D009195:Peroxidase