Abstract
Several recent reports have shown some patients with Glanzman's thrombasthenia (GT) to have a defect in platelet membrane glycoproteins. We have followed three siblings in a Guamanian family with severe qualitative platelet disorder clinically diagnosed as GT. All three have manifested spontaneous bruising and mucous membrane bleeding since birth. Major bleeding associated with minimal trauma has required repeated platelet and blood transfusions. The lab data have been identical in these three patients on repeated testing in two separate laboratories. All three have shown prolonged bleeding times, normal platelet counts and platelet morphology, no clot retraction, no aggregation to epinephrine, ADP, or thrombin and normal aggregation to ristocetin. Slight aggregation was seen with full strength collagen. Platelet membrane proteins from our patients were labeled with125 I using the lactoperoxidase technique. Solubilized labeled and unlabeled membrane proteins were subjected to polyacrylamlde gel electrophoresis and evaluated by protein and glycoprotein staining as well as determining the sequential radioactivity of 1 mm gel slices. Normal staining and radioactive patterns were noted in every instance. We conclude that patients with the clinical and laboratory profile of GT reflects a full spectrum of variable molecular abnormalities, since we could not demonstrate abnormal membrane proteins.
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Lightsey, A., Millan, R., Koenig, H. et al. A FAMILIAL GLANZMAN'S-LIKE PLATELET DYSFUNCTION WITH NORMAL MEMBRANE PROTEINS. Pediatr Res 11, 475 (1977). https://doi.org/10.1203/00006450-197704000-00629
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DOI: https://doi.org/10.1203/00006450-197704000-00629