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Indices of iron homeostasis in asymptomatic subjects with HFE mutations and moderate ferritin elevation during iron removal treatment.
Infanti, Laura; Leitner, Gerda; Moe, Morten K; Pehlic, Vildana; Benkert, Pascal; Cattaneo, Marco; Holbro, Andreas; Passweg, Jakob; Worel, Nina; Buser, Andreas.
Afiliação
  • Infanti L; Regional Blood Transfusion Centre, Transfusion Medicine, Swiss Red Cross, Basel, Switzerland; Division of Haematology, University Hospital, University of Basel, Switzerland. Electronic address: Laura.infanti@usb.ch.
  • Leitner G; Department of Blood Group Serology and Transfusion Medicine, University of Vienna, Austria.
  • Moe MK; Unit of Medical Biochemistry, Division of Diagnostics and Technology, Akershus University Hospital, Norway.
  • Pehlic V; Regional Blood Transfusion Centre, Transfusion Medicine, Swiss Red Cross, Basel, Switzerland.
  • Benkert P; Clinical Trial Unit, Department of Clinical Research, University and University Hospital Basel, Switzerland.
  • Cattaneo M; Clinical Trial Unit, Department of Clinical Research, University and University Hospital Basel, Switzerland.
  • Holbro A; Regional Blood Transfusion Centre, Transfusion Medicine, Swiss Red Cross, Basel, Switzerland; Division of Haematology, University Hospital, University of Basel, Switzerland.
  • Passweg J; Division of Haematology, University Hospital, University of Basel, Switzerland.
  • Worel N; Department of Blood Group Serology and Transfusion Medicine, University of Vienna, Austria.
  • Buser A; Regional Blood Transfusion Centre, Transfusion Medicine, Swiss Red Cross, Basel, Switzerland; Division of Haematology, University Hospital, University of Basel, Switzerland.
Blood Cells Mol Dis ; 97: 102689, 2022 11.
Article em En | MEDLINE | ID: mdl-35780678
ABSTRACT
We analysed iron biomarkers and their relationships in 30 subjects with HFE mutations and moderate hyperferritinaemia undergoing iron removal at our blood donation centre. Body mass index (BMI) and liver enzymes were assessed. Serum iron (SI), ferritin, transferrin saturation (TSAT), hepcidin and non-transferrin bound iron (NTBI) were measured serially. Seventeen subjects had p.C282Y/p.C282Y, nine p.C282Y/p.H63D, four p.H63D/p.H63D. Median age (p = 0.582), BMI (p = 0.500) and ferritin (p = 0.089) were comparable. At baseline, 12/17 p.C282Y/p.C282Y and 2/9 p.C282Y/p.H63D had measurable NTBI (p = 0.003). The p.C282Y/p.C282Y had higher TSAT (p < 0.001), lower hepcidin (p = 0.031) and hepcidin/ferritin ratio (p = 0.073). After treatment, iron indices were similar among groups, except TSAT (higher in p.C282Y/p.C282Y; p = 0.06). Strong relationships were observed between ferritin and TSAT (R = 0.71), NTBI and TSAT (R = 0.61), NTBI and SI (R = 0.54) in p.C282Y/p.C282Y. Hepcidin correlated weakly with ferritin in p.C282Y/p.C282Y (R = 0.37) but strongly in p.C282Y/p.H63D (R = 0.66) and p.H63D/p.H63D (R = 0.72), while relationships with TSAT were weak (R = 0.27), moderate (R = 0.55) and strong (R = 0.61), respectively. Low penetrance p.C282Y/p.C282Y phenotype displays hepcidin dysregulation and biochemical risk for iron toxicity.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article