Cited by 306Iron Metabolism and DisordersHemoglobinopathies and Related DisordersNeurological diseases and metabolism

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The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload

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Camaschella, Clara, Campanella, Alessandro, De Falco, Luigia, Boschetto, Loredana, Merlini, Roberta, Silvestri, Laura, Levi, Sonia, Iolascon, Achille·2007·Blood

DOI 10.1182/blood-2007-02-072520

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Abstract

Inherited microcytic-hypochromic anemias in rodents and zebrafish suggest the existence of corresponding human disorders. The zebrafish mutant shiraz has severe anemia and is embryonically lethal because of glutaredoxin 5 (GRLX5) deletion, insufficient biogenesis of mitochondrial iron-sulfur (Fe/S) clusters, and deregulated iron-regulatory protein 1 (IRP1) activity. This leads to stabilization of transferrin receptor 1 (TfR) RNA, repression of ferritin, and ALA-synthase 2 (ALAS2) translation with impaired heme synthesis. We report the first case of GLRX5 deficiency in a middle-aged anemic male with iron overload and a low number of ringed sideroblasts. Anemia was worsened by blood transfusions but partially reversed by iron chelation. The patient had a homozygous (c.294A>G) mutation that interferes with intron 1 splicing and drastically reduces GLRX5 RNA. As in shiraz, aconitase and H-ferritin levels were low and TfR level was high in the patient's cells, compatible with increased IRP1 binding. Based on the biochemical and clinical phenotype, we hypothesize that IRP2, less degraded by low heme, contributes to the repression of the erythroblasts ferritin and ALAS2, increasing mitochondrial iron. Iron chelation, redistributing iron to the cytosol, might relieve IRP2 excess, improving heme synthesis and anemia. GLRX5 function is highly conserved, but at variance with zebrafish, its defect in humans leads to anemia and iron overload.

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Authors: Camaschella, C., Campanella, A., De Falco, L., Boschetto, L., Merlini, R., Silvestri, L., Levi, S., & Iolascon, A.
Affiliations: IRCCS San Raffaele Roma (IT)
Vita-Salute University and
Centre of Genetics Engineering (CEINGE) Advanced Biotechnologies, Naples;
CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
University of Turin (IT)
ORCID: Camaschella, Clara
Campanella, Alessandro
Silvestri, Laura
Levi, Sonia
Iolascon, Achille
Venue: Blood
Publisher: American Society of Hematology
Published: 2007-08-15
Volume: 110
Issue: 4
Pages: 1353-1358
ISSN: 0006-4971 (ISSN-L)
1528-0020
DOI: 10.1182/blood-2007-02-072520
OpenAlex: W2095232221
Cited by: 306
References: 23
Citations by year: 2026: 3 · 2025: 4 · 2024: 7 · 2023: 10 · 2022: 12 · 2021: 13 · 2020: 17 · 2019: 12 · 2018: 11 · 2017: 18 · 2016: 15 · 2015: 14 · 2014: 27 · 2013: 21 · 2012: 15
FWCI: 16.90
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Blood (publishedVersion)
PubMed (publishedVersion)
Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
Funders: Ministero dell’Istruzione, dell’Università e della Ricerca
Topics: Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords: sideroblastic anemia, iron overload, microcytic anemia, iron regulatory protein 1, IRP2, transferrin receptor 1, heme biosynthesis, ALAS2, ferritin, iron chelation, zebrafish model, human disease
MeSH terms: Aconitate Hydratase, Anemia, Sideroblastic, Cells, Cultured, Enzyme-Linked Immunosorbent Assay, Humans, Male, Middle Aged, Mitochondria, Mutation, Oxidoreductases, Blotting, Western, Iron Overload, Reverse Transcriptase Polymerase Chain Reaction, Immunoprecipitation, Glutaredoxins

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The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload

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