title: Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia.
abstract: A family with an inherited bleeding disorder extending over four generations, and multiple cases of myeloblastic and myelomonoblastic leukaemia was studied. Ten members of the family had, by history, a haemorrhagic diathesis. There were three documented cases of myeloblastic leukaemia, two documented cases of myelomonoblastic leukaemia and two more cases of leukaemia by history. In four of the cases the bleeding diathesis clearly antedated the leukaemia, in two by many years. The bleeding disorder is characterized by a long bleeding time, abnormal platelet aggregation, low platelet ADP and decreased numbers of platelet dense bodies consistent with a dense granule storage pool deficiency. The number of dense granules was decreased by immunofluorescence employing quinacrine or using an antibody to the dense granule membrane protein, granulophysin, confirming an absolute decrease in dense granule numbers rather than the presence of empty granule sacs. This congenital storage pool deficiency is associated with a high incidence of acute myeloid leukaemia in this family.
authors.affiliation: Department of Paediatrics, University of Manitoba, Winnipeg, Canada.
authors.forename: J M
authors.initials: JM
authors.lastname: Gerrard
authors.forename: E D
authors.initials: ED
authors.lastname: Israels
authors.forename: A J
authors.initials: AJ
authors.lastname: Bishop
authors.forename: M L
authors.initials: ML
authors.lastname: Schroeder
authors.forename: L L
authors.initials: LL
authors.lastname: Beattie
authors.forename: A
authors.initials: A
authors.lastname: McNicol
authors.forename: S J
authors.initials: SJ
authors.lastname: Israels
authors.forename: D
authors.initials: D
authors.lastname: Walz
authors.forename: A H
authors.initials: AH
authors.lastname: Greenberg
authors.forename: M
authors.initials: M
authors.lastname: Ray
mesh_terms: D000208:Acute Disease; D000328:Adult; D000368:Aged; D001777:Blood Coagulation / Q000502:physiology; D001792:Blood Platelets / Q000201:enzymology / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000378:metabolism; D005260:Female; D006801:Humans; D007951:Leukemia, Myeloid / Q000150:complications*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010974:Platelet Aggregation / Q000502:physiology; D010981:Platelet Storage Pool Deficiency / Q000097:blood / Q000150:complications* / Q000235:genetics