Diagnosis of heterozygotes in Glanzmann's thrombasthenia.
A study of a family with a propositus suffering from classical thrombasthenia type I has shown that the new immunochemical methods detect heterozygotes with high reliability. There was no overlapping between heterozygotes and normals, and the concentration of the glycoproteins IIb-IIIa-complex is remarkable constant around 50-60% in the heterozygotes. Furthermore, heterozygotes as a group show an increased bleeding tendency.
D000328:Adult; D000818:Animals; D001780:Blood Coagulation Tests; D001791:Blood Platelet Disorders / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D001792:Blood Platelets / Q000032:analysis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005340:Fibrinogen / Q000032:analysis; D006580:Genetic Carrier Screening; D006023:Glycoproteins / Q000097:blood; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D008297:Male; D008875:Middle Aged; D010979:Platelet Function Tests; D010980:Platelet Membrane Glycoproteins; D011817:Rabbits; D012709:Serum Albumin / Q000032:analysis
D006023:Glycoproteins; D010980:Platelet Membrane Glycoproteins; D012709:Serum Albumin; D005340:Fibrinogen