Genetics of Anaemia and Iron Deficiency
Anaemia involves reduced haemoglobin or red blood cell capacity, with genetic variants influencing iron absorption, utilisation, red cell production, and haemoglobin structure. Functional iron deficiency is common in chronic illness including Long COVID.
This page is for educational and informational purposes only. Not a diagnostic tool. Always consult a qualified healthcare provider.
What is Anaemia and Iron Deficiency?
Anaemia is the most common haematological condition worldwide, with genetic and dietary causes. Iron deficiency anaemia involves reduced iron stores and haemoglobin synthesis. Key iron metabolism genes include HFE (hereditary haemochromatosis — C282Y variant), TMPRSS6 (iron-refractory iron deficiency anaemia — IRIDA), and TFRC (transferrin receptor). Functional anaemia of chronic disease involves inflammatory hepcidin (HAMP) sequestering iron in macrophages. Long COVID patients frequently report fatigue consistent with anaemia of chronic disease, with elevated ferritin but reduced circulating iron. Genetic variants modulating hepcidin, iron transport, and erythropoiesis affect anaemia susceptibility and recovery.
Biological pathways commonly discussed in relation to Anaemia and Iron Deficiency
Research into Anaemia, Iron Deficiency, and Haematological Genetics has highlighted several biological pathways that may be relevant. Genetic variants within these pathways may influence individual susceptibility, symptom severity, or the trajectory of the condition.
Iron Absorption
Duodenal iron absorption is mediated by DMT1 (SLC11A2) and ferroportin (SLC40A1). Dietary ferric iron is reduced to ferrous form by DCYTB (CYBRD1). HFE regulates transferrin receptor interactions and iron absorption rate. C282Y and H63D variants in HFE cause iron overload.
Haemoglobin Synthesis
Haemoglobin is assembled from alpha and beta globin chains (HBA1/2, HBB). Beta-thalassaemia variants in HBB reduce beta-globin production. Sickle cell disease results from HBB Glu6Val, altering haemoglobin structure and causing red cell sickling.
Erythropoiesis
Red blood cell production is driven by EPO signalling through EPOR in erythroid progenitors. Iron availability and B12/folate (for DNA synthesis) are required for normal erythropoiesis. TMPRSS6 regulates hepcidin suppression during iron deficiency.
Hepcidin Regulation
Hepcidin (HAMP) is a liver-derived peptide that reduces iron absorption and sequestres iron in macrophages. Elevated hepcidin during inflammation (IL-6 driven) causes anaemia of chronic disease, functionally reducing available iron despite adequate stores.
Key genes studied in relation to Anaemia and Iron Deficiency
The following genes have been studied in relation to Anaemia, Iron Deficiency, and Haematological Genetics. These genes span the biological pathways most commonly discussed in this area of research.
Genetic variants commonly discussed
The following genetic variants (SNPs) are found in genes that have been studied in relation to Anaemia and Iron Deficiency. Each variant represents a position in the genome where individuals may carry different alleles.
10 variants total across genes studied in relation to Anaemia and Iron Deficiency.
How personal DNA data may provide educational insights
Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may relate to areas such as Anaemia and Iron Deficiency.
This is not a diagnostic service. Genetic variants do not determine whether you have Anaemia and Iron Deficiency, nor do they predict your clinical outcomes. The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. All results should be discussed with a qualified healthcare provider.
Related conditions and pathways
Anaemia and Iron Deficiency shares biological pathways and genetic associations with the following related conditions and areas of research.
Frequently asked questions
Is anaemia common in Long COVID?
Functional anaemia of chronic disease is common in inflammatory conditions including Long COVID. Elevated IL-6 drives hepcidin production, which sequesters iron in macrophages, reducing circulating iron for haemoglobin synthesis. Some Long COVID patients show this pattern with elevated ferritin but low transferrin saturation and functional iron deficiency.
What is HFE C282Y and what does it cause?
HFE C282Y is the primary variant causing hereditary haemochromatosis (HH), causing excessive intestinal iron absorption and progressive iron overload in organs. C282Y homozygotes (~1 in 200 Northern Europeans) can develop liver disease, diabetes, and cardiomyopathy if untreated. The condition is manageable with regular therapeutic phlebotomy.
What is thalassaemia?
Thalassaemias are inherited haemoglobin disorders caused by reduced or absent globin chain synthesis. Beta-thalassaemia (HBB variants) and alpha-thalassaemia (HBA1/2 deletions) cause anaemia of varying severity. Carrier status (thalassaemia trait) is common in Mediterranean, Middle Eastern, South Asian, and African populations and causes mild microcytic anaemia.
Which anaemia-related genes are studied?
Key genes include HFE, TMPRSS6, HAMP, SLC11A2, SLC40A1, TFRC, HBB, HBA1/2, EPO, and EPOR. These cover iron absorption, transport, haemoglobin synthesis, erythropoiesis, and iron homeostasis regulation.
Explore DNA insights
If you already have DNA data from 23andMe, AncestryDNA, or MyHeritage, upload your raw file to ChronicDNA and receive a personalised educational report covering genes studied in relation to Anaemia and Iron Deficiency and connected biological pathways.
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7 genes · 10 variants analysed in relation to Anaemia and Iron Deficiency