Rare diseases · Sign or symptom
Increased circulating ferritin concentration
Elevated serum ferritin
HP:0003281
What it means
Increased concentration of ferritin in the blood circulation.
Ferritin is a ubiquitous intracellular protein that stores iron. Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction.
Rare diseases that can present with this27
Very common80–99%
13- Aceruloplasminemia
- Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- Adult-onset Still disease
- Dietary iron overload disease
- Familial hemophagocytic lymphohistiocytosis
- GRACILE syndrome
- Heme oxygenase-1 deficiency
- HJV or HAMP-related hemochromatosis
- Macrophage activation syndrome
- Neonatal hemochromatosis
- Severe congenital hypochromic anemia with ringed sideroblasts
- Symptomatic form of HFE-related hemochromatosis
- TFR2-related hemochromatosis
Common30–79%
10- Chédiak-Higashi syndrome
- Dehydrated hereditary stomatocytosis
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
- Gaucher disease
- Gaucher disease type 1
- Hemoglobin E-beta-thalassemia syndrome
- Hemolytic anemia due to red cell pyruvate kinase deficiency
- Hemophagocytic syndrome associated with an infection
- Porphyria cutanea tarda
- Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: High ferritin level · Hyperferritinaemia · Hyperferritinemia · Increased ferritin · Increased plasma ferritin · Increased serum ferritin level
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.