Encontrados 2 documentos, a visualizar página 1 de 1
Consensus on the investigation of thrombophilia in women and clinical management
Nascimento,Claudia Mac Donald Bley; Machado,Andréa Maria Novaes; Guerra,João Carlos de Campos; Zlotnik,Eduardo; Campêlo,Dirceu Hamilton CordeiroABSTRACT Objective To standardize the investigation and clinical management of women with laboratory and/or clinical abnormalities suggestive of thrombophilia, in order to optimize antithrombotic approach and indication of laboratory tests. Methodology A discussion was carried out among 107 physicians (gynecologists/obstetricians, hematologists and vascular surgeons) present at a forum held at the Hospital Isra...
Ferritin light chain gene mutations in two Brazilian families with hereditary h...
Petroni,Roberta Cardoso; Rosa,Susana Elaine Alves da; Carvalho,Flavia Pereira de; Santana,Rúbia Anita Ferraz; Hyppolito,Joyce EstevesABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis ...