Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.21.69 (APC)
 16,337 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

beta-Thalassemic patients exhibit an increased frequency of thrombotic events but most patients with heterozygous beta-thalassemia minor are asymptomatic and no single case with beta-thalassemia minor and concurrent stroke was reported. We present a 15-year-old boy with heterozygous beta-thalassemia minor who developed recurrent transient ischemic attacks as documented with repeated brain SPECTs whereas structural neuro-imaging was not contributory. The patient exhibited resistance to activated protein C due to heterozygosity for factor V Leiden as well as slightly decreased plasma levels of protein C and S. This unique association of risk factors might have caused clinically significant thrombophilia resulting in recurrent cerebrovascular events. This case report underlines the thrombogenic risk of heterozygous beta-thalassemia minor in children heterozygous for factor V Leiden mutation. We therefore suggest to screen for thrombophilia in children with beta-thalassemia minor when thromboembolism-related phenomena occur. This case also demonstrates that brain perfusion SPECT is a useful and sensitive tool for detecting cerebrovascular events in patients with hemoglobinopathies.
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PMID:Recurrent transient ischemic attacks in a 15-year-old boy with beta-thalassemia minor and thrombophilia. Contribution of perfusion SPECT to clinical diagnosis. 1289 4