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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Detection of carriers in Glanzmann's thrombasthenia.

Quantitative glycoprotein (GP) analysis of whole platelets or platelet membranes was performed by SDS-polyacrylamide gel electrophoresis (SDS-PAGE) and periodic acid Schiff staining in the families of two unrelated Glanzmann's thrombasthenia (GT) patients. Each family consisted of two symptom free parents, a symptom free daughter and a GT daughter. All symptom free members had a normal bleeding time, clot retraction and platelet aggregation response to adenosine 5'-diphosphate (ADP), collagen and adrenalin. Platelet Zwa antigen was normally expressed in these subjects. GT patients, classified as a type I and II subject, showed reduced amounts of GP IIb and of GP IIIa. Analysis of isolated membranes in the non-reduced state, however, showed that the amount of GP IIIa was also reduced in three of the four parents, whereas one parent (of the GT type I patient) and the two unaffected daughters had normal amounts of GP IIIa. Quantitative SDS-PAGE may therefore provide a method for the detection of asymptomatic carriers in GT type I and II.[1]


  1. Detection of carriers in Glanzmann's thrombasthenia. Zonneveld, G.T., van Leeuwen, E.F., Sturk, A., ten Cate, J.W. Thromb. Haemost. (1983) [Pubmed]
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