Rare diseases · Sign or symptom
Megaloblastic anemia
HP:0001889
What it means
Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis.
Rare diseases that can present with this11
Very common80–99%
8- Congenital intrinsic factor deficiency
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- Hereditary folate malabsorption
- Imerslund-Gräsbeck syndrome
- Methylmalonic acidemia with homocystinuria, type cblC
- Methylmalonic acidemia with homocystinuria type cblF
- Pancreatic colipase deficiency
- Thiamine-responsive megaloblastic anemia 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: Megaloblastic anaemia
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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.