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  1. Article ; Online: Commentary.

    Piperno, Alberto

    Clinical chemistry

    2020  Volume 66, Issue 2, Page(s) 281

    MeSH term(s) Anemia ; Copper ; Humans ; Iron ; Liver ; Research
    Chemical Substances Copper (789U1901C5) ; Iron (E1UOL152H7)
    Language English
    Publishing date 2020-02-05
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80102-1
    ISSN 1530-8561 ; 0009-9147
    ISSN (online) 1530-8561
    ISSN 0009-9147
    DOI 10.1093/clinchem/hvz009
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  2. Article ; Online: Hereditary Hyperferritinemia.

    Piperno, Alberto / Pelucchi, Sara / Mariani, Raffaella

    International journal of molecular sciences

    2023  Volume 24, Issue 3

    Abstract: Ferritin is a ubiquitous protein that is present in most tissues as a cytosolic protein. The major and common role of ferritin is to bind ... ...

    Abstract Ferritin is a ubiquitous protein that is present in most tissues as a cytosolic protein. The major and common role of ferritin is to bind Fe
    MeSH term(s) Humans ; Hyperferritinemia ; Pedigree ; Iron/metabolism ; Iron Overload/genetics ; Ferritins/metabolism
    Chemical Substances Iron (E1UOL152H7) ; Ferritins (9007-73-2)
    Language English
    Publishing date 2023-01-29
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24032560
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  3. Article ; Online: Rhabdomyolysis after Intravenous Ferric Gluconate: A Case Report.

    Botti, Mara / Piperno, Alberto / Cianflone, Annalia / Mariani, Raffaella

    European journal of case reports in internal medicine

    2022  Volume 9, Issue 4, Page(s) 3325

    Abstract: Patients with severe iron deficiency, malabsorption or intolerance to oral iron are frequently treated with intravenous iron replacement. We report the case of a 42-year-old woman with non-erosive oligoarticular arthritis with antiparietal cell ... ...

    Abstract Patients with severe iron deficiency, malabsorption or intolerance to oral iron are frequently treated with intravenous iron replacement. We report the case of a 42-year-old woman with non-erosive oligoarticular arthritis with antiparietal cell antibodies and iron deficiency anemia secondary to menorrhagia and unresponsive to oral iron preparations. She was treated with an intravenous infusion of ferric gluconate. After the first infusion of 125 mg (in 250 mL saline), she developed transient pain in her knee and wrist joints. When the dose was subsequently halved, the patient showed no adverse symptoms in the next four infusions and had normalized hemoglobin levels and iron indices. However, after a subsequent 125 mg ferric gluconate infusion she developed severe leg pain, muscular and joint stiffness, and functional impairment of her hands, right foot, and ankle. Laboratory tests showed a progressive increase in creatine kinase, transaminase, and C-reactive protein that normalized several days after the infusion. Although rhabdomyolysis is not reported among endovenous iron-induced adverse events, our findings suggest that intravenous iron infusions might have increased free iron generation promoting oxidative joint and muscular injury, which would explain the joint pain and stiffness, and rhabdomyolysis. Greater attention should be paid to the more frequent cases of myalgia occurring after iron infusion, which may underlie a rhabdomyolytic event requiring clinical observation.
    Learning points: Rhabdomyolysis can occur not only after intramuscular injection of iron dextran but also after infusion of ferric gluconate.The generation of increased free iron following iron administration can promote oxidative joint and muscular injury.Leg cramps and myalgia, which are relatively common adverse events after iron infusions, might represent undiagnosed events of mild to moderate rhabdomyolysis requiring further investigation.
    Language English
    Publishing date 2022-04-21
    Publishing country Italy
    Document type Journal Article
    ISSN 2284-2594
    ISSN (online) 2284-2594
    DOI 10.12890/2022_003325
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  4. Article ; Online: Molecular diagnosis of hemochromatosis.

    Piperno, Alberto

    Expert opinion on medical diagnostics

    2013  Volume 7, Issue 2, Page(s) 161–177

    Abstract: Introduction: The discovery of hemochromatosis genes and the availability of molecular-genetic tests considerably modified the knowledge of the disease relative to physiopathology, penetrance, and expression, and had major impact in the diagnostic ... ...

    Abstract Introduction: The discovery of hemochromatosis genes and the availability of molecular-genetic tests considerably modified the knowledge of the disease relative to physiopathology, penetrance, and expression, and had major impact in the diagnostic settings.
    Areas covered: Hemochromatosis is a heterogenous disorder at both genetic and phenotypic level. The review discusses criteria to define patients' iron phenotype and to use molecular tests to diagnose HFE-related and non-HFE hemochromatosis. The material examined includes articles published in the journals covered by PubMed US National Library of Medicine. The author has been working in the field of iron overload diseases for several years and has contributed 18 of the papers cited in the references.
    Expert opinion: Hemochromatosis genotyping is inseparable from phenotype characterization. A full clinical assessment is needed and DNA test performed when data suggest a clear indication of suspicion of being at risk for HH. HFE testing for p.Cys282Tyr mutation and p.His63Asp variant is the first molecular diagnostic step. Genotyping for rare mutations can be offered to patients with negative first-level HFE testing who have iron overload with no other explanation and should be performed in referral centers for iron overload disorders that can provide genetic advice and in-house genotyping services.
    MeSH term(s) Hemochromatosis/diagnosis ; Humans ; Molecular Diagnostic Techniques
    Language English
    Publishing date 2013-03
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2393880-8
    ISSN 1753-0067 ; 1753-0059
    ISSN (online) 1753-0067
    ISSN 1753-0059
    DOI 10.1517/17530059.2013.763794
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  5. Article ; Online: Ceruloplasmin variants might have different effects in different iron overload disorders.

    Pelucchi, Sara / Ravasi, Giulia / Piperno, Alberto

    Journal of hepatology

    2021  Volume 75, Issue 4, Page(s) 1003–1004

    MeSH term(s) Ceruloplasmin/genetics ; Hemochromatosis ; Humans ; Iron Overload/genetics
    Chemical Substances Ceruloplasmin (EC 1.16.3.1)
    Language English
    Publishing date 2021-05-21
    Publishing country Netherlands
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 605953-3
    ISSN 1600-0641 ; 0168-8278
    ISSN (online) 1600-0641
    ISSN 0168-8278
    DOI 10.1016/j.jhep.2021.05.005
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    Zs.A 2027: Show issues Location:
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  6. Article ; Online: Faecal occult blood test and iron deficiency anaemia.

    Piperno, Alberto

    Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver

    2012  Volume 44, Issue 7, Page(s) 625

    MeSH term(s) Anemia, Iron-Deficiency/complications ; Endoscopy, Gastrointestinal ; Female ; Gastrointestinal Hemorrhage/complications ; Gastrointestinal Hemorrhage/diagnosis ; Humans ; Male ; Occult Blood
    Language English
    Publishing date 2012-07
    Publishing country Netherlands
    Document type Comment ; Letter
    ZDB-ID 1459373-7
    ISSN 1878-3562 ; 1125-8055
    ISSN (online) 1878-3562
    ISSN 1125-8055
    DOI 10.1016/j.dld.2012.01.019
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    Zs.A 1134: Show issues Location:
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  7. Article: Aceruloplasminemia: Waiting for an Efficient Therapy.

    Piperno, Alberto / Alessio, Massimo

    Frontiers in neuroscience

    2018  Volume 12, Page(s) 903

    Abstract: Aceruloplasminemia is an ultra-rare hereditary disorder caused by defective production of ceruloplasmin. Its phenotype is characterized by iron-restricted erythropoiesis and tissue iron overload, diabetes, and progressive retinal and neurological ... ...

    Abstract Aceruloplasminemia is an ultra-rare hereditary disorder caused by defective production of ceruloplasmin. Its phenotype is characterized by iron-restricted erythropoiesis and tissue iron overload, diabetes, and progressive retinal and neurological degeneration. Ceruloplasmin is a ferroxidase that plays a critical role in iron homeostasis through the oxidation and mobilization of iron from stores and subsequent incorporation of ferric iron into transferrin (Tf), which becomes available for cellular uptake via the Tf receptor. In addition, ceruloplasmin has antioxidant properties preventing the production of deleterious reactive oxygen species via the Fenton reaction. Some recent findings suggest that aceruloplasminemia phenotypes can be more heterogeneous than previously believed, varying within a wide range. Within this large heterogeneity, microcytosis with or without anemia, low serum iron and high serum ferritin, and diabetes are the early hallmarks of the disease, while neurological manifestations appear 10-20 years later. The usual therapeutic approach is based on iron chelators that are efficacious in reducing systemic iron overload. However, they have demonstrated poor efficacy in counteracting the progression of neurologic manifestations, and also often aggravate anemia, thereby requiring drug discontinuation. Open questions remain regarding the mechanisms leading to neurological manifestation and development of diabetes, and iron chelation therapy (ICT) efficacy. Recent studies in animal models of aceruloplasminemia support the possibility of new therapeutic approaches by parenteral ceruloplasmin administration. In this review we describe the state of the art of aceruloplasminemia with particular attention on the pathogenic mechanisms of the disease and therapeutic approaches, both current and perspective.
    Language English
    Publishing date 2018-12-04
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2411902-7
    ISSN 1662-453X ; 1662-4548
    ISSN (online) 1662-453X
    ISSN 1662-4548
    DOI 10.3389/fnins.2018.00903
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  8. Article ; Online: Inherited iron overload disorders.

    Piperno, Alberto / Pelucchi, Sara / Mariani, Raffaella

    Translational gastroenterology and hepatology

    2020  Volume 5, Page(s) 25

    Abstract: Hereditary iron overload includes several disorders characterized by iron accumulation in tissues, organs, or even single cells or subcellular compartments. They are determined by mutations in genes directly involved in hepcidin regulation, cellular iron ...

    Abstract Hereditary iron overload includes several disorders characterized by iron accumulation in tissues, organs, or even single cells or subcellular compartments. They are determined by mutations in genes directly involved in hepcidin regulation, cellular iron uptake, management and export, iron transport and storage. Systemic forms are characterized by increased serum ferritin with or without high transferrin saturation, and with or without functional iron deficient anemia. Hemochromatosis includes five different genetic forms all characterized by high transferrin saturation and serum ferritin, but with different penetrance and expression. Mutations in HFE, HFE2, HAMP and TFR2 lead to inadequate or severely reduced hepcidin synthesis that, in turn, induces increased intestinal iron absorption and macrophage iron release leading to tissue iron overload. The severity of hepcidin down-regulation defines the severity of iron overload and clinical complications. Hemochromatosis type 4 is caused by dominant gain-of-function mutations of ferroportin preventing hepcidin-ferroportin binding and leading to hepcidin resistance. Ferroportin disease is due to loss-of-function mutation of SLC40A1 that impairs the iron export efficiency of ferroportin, causes iron retention in reticuloendothelial cell and hyperferritinemia with normal transferrin saturation. Aceruloplasminemia is caused by defective iron release from storage and lead to mild microcytic anemia, low serum iron, and iron retention in several organs including the brain, causing severe neurological manifestations. Atransferrinemia and DMT1 deficiency are characterized by iron deficient erythropoiesis, severe microcytic anemia with high transferrin saturation and parenchymal iron overload due to secondary hepcidin suppression. Diagnosis of the different forms of hereditary iron overload disorders involves a sequential strategy that combines clinical, imaging, biochemical, and genetic data. Management of iron overload relies on two main therapies: blood removal and iron chelators. Specific therapeutic options are indicated in patients with atransferrinemia, DMT1 deficiency and aceruloplasminemia.
    Language English
    Publishing date 2020-04-05
    Publishing country China
    Document type Journal Article ; Review
    ISSN 2415-1289
    ISSN (online) 2415-1289
    DOI 10.21037/tgh.2019.11.15
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  9. Article: Mental Well-Being in Patients with Transfusion-Dependent Anemias and Hemochromatosis during the SARS-CoV-2 Pandemic.

    Piperno, Rachele / Bertazioli, Gabriella / Ravasi, Giulia / Mariani, Raffaella / Piperno, Alberto

    Mediterranean journal of hematology and infectious diseases

    2021  Volume 13, Issue 1, Page(s) e2021024

    Language English
    Publishing date 2021-03-01
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2674750-9
    ISSN 2035-3006
    ISSN 2035-3006
    DOI 10.4084/MJHID.2021.024
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  10. Article ; Online: A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.

    Monfrini, Edoardo / Pelucchi, Sara / Hollmén, Maija / Viitala, Miro / Mariani, Raffaella / Bertola, Francesca / Majore, Silvia / Di Fonzo, Alessio / Piperno, Alberto

    American journal of human genetics

    2023  Volume 110, Issue 8, Page(s) 1436–1443

    Abstract: Hyperferritinemia is a frequent finding in several conditions, both genetic and acquired. We previously studied eleven healthy subjects from eight different families presenting with unexplained hyperferritinemia. Their findings suggested the existence of ...

    Abstract Hyperferritinemia is a frequent finding in several conditions, both genetic and acquired. We previously studied eleven healthy subjects from eight different families presenting with unexplained hyperferritinemia. Their findings suggested the existence of an autosomal-recessive disorder. We carried out whole-exome sequencing to detect the genetic cause of hyperferritinemia. Immunohistochemistry and flow cytometry assays were performed on liver biopsies and monocyte-macrophages to confirm the pathogenic role of the identified candidate variants. Through a combined approach of whole-exome sequencing and homozygosity mapping, we found bi-allelic STAB1 variants in ten subjects from seven families. STAB1 encodes the multifunctional scavenger receptor stabilin-1. Immunohistochemistry and flow cytometry analyses showed absent or markedly reduced stabilin-1 in liver samples, monocytes, and monocyte-derived macrophages. Our findings show a strong association between otherwise unexplained hyperferritinemia and bi-allelic STAB1 mutations suggesting the existence of another genetic cause of hyperferritinemia without iron overload and an unexpected function of stabilin-1 in ferritin metabolism.
    MeSH term(s) Humans ; Hyperferritinemia ; Iron Overload/genetics ; Iron Overload/diagnosis ; Ferritins/genetics ; Macrophages ; Alleles
    Chemical Substances Ferritins (9007-73-2)
    Language English
    Publishing date 2023-07-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2023.07.004
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