Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The prevalence of the prothrombin gene variant (allele 20.210 A), factor V Leiden mutation, and homozygosity for transition 677C-->T in the methylenetetrahydrofolate reductase (MTHFR) gene was determined among patients with sickle cell disease (SCD). The group included 73 patients with median age of 32.3 years with a diagnosis of sickle cell anemia in 53 patients, hemoglobinopathy SC in 16 patients, and four with S/beta(0) thalassemia. Vascular complications such as ischemic stroke or deep vein thrombosis were diagnosed in nine patients. Heterozygosity for the prothrombin gene variant or factor V Leiden mutation was identified in four patients. However, only one patient, who developed ischemic stroke, was identified as a carrier of factor V Leiden mutation. None of the patients presented homozygosity for the thermolabile variant of the MTHFR. These data suggest a low clinical impact of inherited hypercoagulability risk factors in developing thrombosis, occlusive stroke, or mortality data among patients with SCD in Brazil.
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PMID:Prothrombin mutant, factor V Leiden, and thermolabile variant of methylenetetrahydrofolate reductase among patients with sickle cell disease in Brazil. 972 76

Given the growing patient population with hemoglobinopathies needing total joint arthroplasty (TJA) and paucity of literature addressing this cohort, we examined the in-hospital complications in patients with hemoglobinopathies undergoing TJA. International Classification of Diseases, Ninth Revision codes were used to search the Nationwide Inpatient Sample database for hemoglobinopathy patients undergoing primary or revision TJA. Hemoglobinopathy patients had a significant increase in cardiac, respiratory, and wound complications; blood product transfusion; pulmonary embolism; surgical site infection; and systemic infection events, while there was no significant effect on deaths, deep vein thrombosis, and renal complications. It may be prudent to implement blood conservation strategies as well as diligent postoperative protocols to minimize the need for transfusion and related complications in this patient population.
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PMID:In-Hospital Morbidity and Mortality Following Total Joint Arthroplasty in Patients with Hemoglobinopathies. 2586 87

The use of rivaroxaban in patients with hemoglobinopathies and thrombotic events has not been studied extensively. Here we present eight cases of such patients, five receiving rivaroxaban for stroke and systemic embolism prevention due to non-valvular atrial fibrillation and three for deep vein thrombosis treatment. The follow-up period ranged from 6 to 34 months. During this period none of the patients experienced any thrombotic or bleeding event.There were no other adverse events reported. Further studies with larger numbers of patients with hemoglobinopathies are needed to determine the use of rivaroxaban and ensure its safety in this patient setting.
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PMID:Rivaroxaban Use in Patients with Hemoglobinopathies. 2895 Jul 80