ArticleBlood2015
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.
Article in Blood, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 39 citations in OpenAlex.
- Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.Hepatology communications · 2025Review
- [Two siblings with congenital erythropoietic porphyria in one family: case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.Orphanet journal of rare diseases · 2025Review
- Porto-Sinusoidal Vascular Disease in Congenital Erythropoietic Porphyria Needing Liver Transplantation.ACG case reports journal · 2024Article
- Article
- Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.Life (Basel, Switzerland) · 2024Article
- Management of erythropoietic protoporphyria with cholestatic liver disease: A case report.Molecular genetics and metabolism reports · 2023Article
- Iron Metabolism in the Disorders of Heme Biosynthesis.Metabolites · 2022Review
- Role of phlebotomy in the treatment of liver damage related to erythropoietic porphyria.Scientific reports · 2022Article
- Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay.Metabolites · 2021Review
- Porphyrias in the Age of Targeted Therapies.Diagnostics (Basel, Switzerland) · 2021Review
- Identification of novelMolecular genetics and metabolism reports · 2021Article
- Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models.Scientific reports · 2021Article
- Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.Haematologica · 2021Article
- Article
- Nutrients and Porphyria: An Intriguing Crosstalk.International journal of molecular sciences · 2020Review
- Congenital erythropoietic porphyria: Recent advances.Molecular genetics and metabolism · 2019Review
- Heme biosynthesis and the porphyrias.Molecular genetics and metabolism · 2019Review
- Mutation in humanProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Advances in understanding erythropoiesis: evolving perspectives.British journal of haematology · 2016Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis characterized by reduced activity of uroporphyrinogen III synthase and the accumulation of nonphysiologic isomer I porphyrin metabolites, resulting in ineffective erythropoiesis and devastating skin photosensitivity. Management of the disease primarily consists of supportive measures. Increased activity of 5-aminolevulinate synthase 2 (ALAS2) has been shown to adversely modify the disease phenotype. Herein, we present a patient with CEP who demonstrated a remarkable improvement in disease manifestations in the setting of iron deficiency. Hypothesizing that iron restriction improved her symptoms by decreasing ALAS2 activity and subsequent porphyrin production, we treated the patient with off-label use of deferasirox to maintain iron deficiency, with successful results. We confirmed the physiology of her response with marrow culture studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.