Cystic fibrosis heterozygotes do not have increased platelet activation
Department of Pediatrics
Adult; Case-Control Studies; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; *Heterozygote; Humans; Male; Middle Aged; Platelet Activation
Hematology | Oncology | Pediatrics
INTRODUCTION: We have previously demonstrated platelet hyperreactivity in cystic fibrosis (CF) patients. Carriers of one CF mutation (heterozygotes) have been shown to have abnormalities related to the presence of only one-half the normal amount of CF transmembrane conductance regulator protein. Platelet hyperreactivity in CF heterozygotes would be an important cardiovascular risk factor, since approximately 1 in 25 Caucasians is a CF carrier.
MATERIALS AND METHODS: We used highly sensitive assays of platelet activation to assess the difference between 16 CF heterozygotes and 16 age- and sex-matched healthy controls without CF mutations.
RESULTS: We found no difference in platelet activation between CF heterozygotes and controls.
CONCLUSIONS: The 50% reduction in the CF transmembrane conductance regulator protein in heterozygotes is insufficient to cause platelet activation.
DOI of Published Version
Thromb Res. 2007;121(2):159-62. Epub 2007 May 29. doi: 10.1016/j.thromres.2007.04.004
Tarnow I, Michelson AD, Frelinger AL, Linden MD, Li Y, Fox ML, Barnard MR, O'Sullivan BP. (2007). Cystic fibrosis heterozygotes do not have increased platelet activation. Hematology/Oncology. https://doi.org/10.1016/j.thromres.2007.04.004. Retrieved from https://escholarship.umassmed.edu/peds_hematology/94