The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload
Open accessAbstract
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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Rare severe cases of sideroblastic anemia result from mutations of Fe/S cluster proteins, such as GLRX5 or HSPA9, which decrease Fe/S groups and the activity of ferrochelatase, the last enzyme of the heme pathway.
“Rare severe cases result from mutations of Fe/S cluster proteins, such as GLRX589 or HSPA9,90 which decrease Fe/S groups and the activity of ferrochelatase, the last enzyme of the heme pathway.”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [89]
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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)
- 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
- 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 › 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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