How I manage patients with atypical microcytic anaemia
Abstract
Summary: Microcytic hypochromic anaemias are a result of defective iron handling by erythroblasts that decrease the haemoglobin content per red cell. Recent advances in our knowledge of iron metabolism and its homeostasis have led to the discovery of novel inherited anaemias that need to be distinguished from common iron deficiency or other causes of microcytosis. These atypical microcytic anaemias can be classified as: (i) defects of intestinal iron absorption (ii) disorders of the transferrin receptor cycle that impair erythroblast iron uptake (iii) defects of mitochondrial iron utilization for haem or iron sulphur cluster synthesis and (iv) defects of iron recycling. A careful patient history and evaluation of laboratory tests may enable these rare conditions to be distinguished from the more common iron deficiency anaemia. Molecular studies allow distinction of the different types, a prerequisite for differentiated therapy.
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Other rare recessive disorders of the transferrin receptor pathway - such as hypotransferrinemia and DMT1 mutations - lead to atypical microcytic anemia with increased transferrin saturation and iron stores, because of decreased iron utilization by blunted erythropoiesis.
“Other rare recessive disorders of the transferrin receptor pathway – such as hypotransferrinemia and DMT1 mutations – lead to “atypical microcytic anemia” with increased transferrin saturation and iron stores, because of decreased iron utilization by blunted erythropoiesis.85”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [85]
The anemia in IRIDA is refractory to oral iron and may require intravenous therapy, especially when iron demand is high.
“The anemia is refractory to oral iron and may require intravenous therapy, especially when iron demand is high.85”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [85]
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Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene
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Transferrin receptor is necessary for development of erythrocytes and the nervous system
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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
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- Authors
- Camaschella, C.
- Affiliations
- Vita-Salute San Raffaele University (IT)
- Corresponding author
- Camaschella, Clara
- ORCID
- Camaschella, Clara
- Venue
- British Journal of Haematology
- Publisher
- Wiley
- Published
- 2012-10-11
- Volume
- 160
- Issue
- 1
- Pages
- 12-24
- ISSN
- 0007-1048 (ISSN-L)
- 1365-2141
- OpenAlex
- W2016035940
- Cited by
- 49
- References
- 8
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 5 · 2023: 3 · 2021: 3 · 2020: 9 · 2019: 2 · 2018: 4 · 2017: 3 · 2016: 2 · 2015: 4 · 2014: 7 · 2013: 3
- FWCI
- 0.71
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- British Journal of Haematology (publishedVersion)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- 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
- iron metabolism, iron deficiency anemia, intestinal iron absorption, transferrin receptor, iron-sulfur clusters, iron recycling, haem synthesis, molecular diagnosis, differential diagnosis
- MeSH terms
- Iron Deficiencies, Anemia, Hypochromic, Animals, Humans, Iron Overload
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