Case report: familial thrombo-cytopenia in seven members of three generations.
All members in one generation and two of six members of the next generation were found to have familial thrombocytopenia. The disorder was transmitted as an autosomal dominant trait. Easy bruising and a bleeding tendency were the common features. No member had splenomegaly. Platelet counts varied from 8 to 75 x 10-9/liter, and there were no apparent morphologic abnormalities. Platelet survival studies using sodium chromate Cr 51-labeled autologous platelets were done for three members and showed shortened survival times. Two members were treated with corticosteroids and splenectomy without benefit. Three members tolerated surgery (splenectomy, polypectomy) without undue difficulty. Defective or ineffective thrombocytopoiesis appeared to be the basis of this hereditary disorder.
D000328:Adult; D000368:Aged; D001772:Blood Cell Count; D001792:Blood Platelets / Q000502:physiology; D002470:Cell Survival; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D013921:Thrombocytopenia / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy