hemoglobin E disease
Findings
No curated finding names hemoglobin E disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.
Definition from the Mondo Disease Ontology (MONDO:0016243), read 2026-09-29. CC BY 4.0.
- Onset and course
- Miscarriage
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal hemoglobinHPOHP:0011902
- Very frequent (80% to 99% of cases)
- Anemia of inadequate productionHPOHP:0010972
- Very frequent (80% to 99% of cases)
- Decreased mean corpuscular volumeHPOHP:0025066
- Very frequent (80% to 99% of cases)
- HypochromiaHPOHP:0032231
- Very frequent (80% to 99% of cases)
- Hypochromic microcytic anemiaHPOHP:0004840
- Very frequent (80% to 99% of cases)
- Increased red blood cell countHPOHP:0020059
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HBBHGNC:4827
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of