[Familial occurrence of Glanzmann thrombasthenia].
Glanzmann's thrombasthenia, known also as Glanzmann's disease, is an autosomally inherited hemorrhagic disease with unique abnormalities of platelet functions. Authors present a large family in which Glanzmann's disease was diagnosed in the father and two sons. An analysis of platelet membranes enabled diagnosis of Glanzmann's thrombasthenia type II. A decrease in clot contractibility, fibrinogen binding to blood platelets, and decreased glycoprotein IIb and IIIa levels with marked impairment of GP IIb and IIIa complexes formation were characteristic for affected family members. One daughter died 8 days after birth with the symptoms of hemorrhagic diathesis. Mother and remaining three sons are healthy without the signs of Glanzmann's disease.
Musiał
J
J
Kliniki Alergii i Immunologii AM, Krakowie.
Krzanowski
M
M
Judkiewicz
L
L
Cierniewski
C
C
D000293:Adolescent; D000328:Adult; D000368:Aged; D001792:Blood Platelets / Q000378:metabolism*; D005260:Female; D006801:Humans; D039421:Integrin alpha2; D008297:Male; D008562:Membrane Glycoproteins / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D010979:Platelet Function Tests; D010980:Platelet Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism*; D013915:Thrombasthenia / Q000097:blood / Q000209:etiology / Q000235:genetics*
C056564:ITGA2B protein, human; D039421:Integrin alpha2; D008562:Membrane Glycoproteins; D010980:Platelet Membrane Glycoproteins; C040580:glycoprotein GP III
Rodzinne wystepowanie trombastenii Glanzmanna.