Rare diseases · Sign or symptom
Abnormal hemoglobin
HP:0011902
What it means
Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.
Rare diseases that can present with this12
Very common80–99%
11- Alpha-thalassemia
- Beta-thalassemia
- Beta-thalassemia-X-linked thrombocytopenia syndrome
- Congenital amegakaryocytic thrombocytopenia
- Delta-beta-thalassemia
- Hemoglobin Bart's fetalis syndrome
- Hemoglobin C-beta-thalassemia syndrome
- Hemoglobin D disease
- Hemoglobin E-beta-thalassemia syndrome
- Hemoglobin E disease
- Primary familial and congenital erythrocytosis
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: Abnormal haemoglobin · Abnormal Hb
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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.