The molecular genetics of sideroblastic anemia
Open accessAbstract
The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of erythroid precursors. Like most hematological diseases, the molecular genetic basis of the SAs has ridden the wave of technology advancement. Within the last 30 years, with the advent of positional cloning, the human genome project, solid-state genotyping technologies, and next-generation sequencing have evolved to the point where more than two-thirds of congenital SA cases, and an even greater proportion of cases of acquired clonal disease, can be attributed to mutations in a specific gene or genes. This review focuses on an analysis of the genetics of these diseases and how understanding these defects may contribute to the design and implementation of rational therapies.
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Among syndromic forms, the X-linked ABCB7 deficiency reduces export of Fe/S clusters to the cytosol, while others are associated with immunodeficiency, strengthening the need of Fe/S clusters in other cell types.
“Among syndromic forms, the X-linked ABCB7 deficiency reduces export of Fe/S clusters to the cytosol,91 while others are associated with immunodeficiency92 strengthening the need of Fe/S clusters in other cell types (Table 1).”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [91]
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Iron metabolism and iron disorders revisited in the hepcidin era
Camaschella, C., Nai, A., & Silvestri, L. (2020) · Haematologica · doi:10.3324/haematol.2019.232124 · Cited by 734 · see citing works
“Among syndromic forms, the X-linked ABCB7 deficiency reduces export of Fe/S clusters to the cytosol, 91 while others are associated with immunodeficiency 92 strengthening the need of Fe/S clusters in other cell types (Table 1).”
Terzi, E. M., Sviderskiy, V. O., Alvarez, S. W., Whiten, G. C., & Possemato, R. (2021) · Science Advances · doi:10.1126/sciadv.abg4302 · Cited by 195 · see citing works
- Authors
- Ducamp, S., & Fleming, M. D.
- Affiliations
- Boston Children's Hospital (US)
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2019-01-03
- Volume
- 133
- Issue
- 1
- Pages
- 59-69
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC6318428
- OpenAlex
- W2899671011
- Cited by
- 136
- References
- 10
- Citations by year
- 2026: 12 · 2025: 19 · 2024: 28 · 2023: 11 · 2022: 23 · 2021: 20 · 2020: 16 · 2019: 4 · 2018: 1 · 2017: 1 · 2016: 1
- FWCI
- 1.69
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- American Society of Hematology
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (R24DK099808, DK087992, R01DK087992)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Keywords
- sideroblastic anemia, molecular genetics, mitochondrial iron accumulation, erythroid precursors, positional cloning, genetic mutations, congenital sideroblastic anemia, therapeutic design
- MeSH terms
- Anemia, Sideroblastic, Humans, Iron, Erythroid Precursor Cells, Genetic Diseases, X-Linked
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