Hb Bart's hydrops fetalis
Findings
No curated finding names Hb Bart's hydrops fetalis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2).
Definition from the Mondo Disease Ontology (MONDO:0015579), read 2026-09-29. CC BY 4.0.
Features
11 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)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Congestive heart failureHPOHP:0001635
- Very frequent (80% to 99% of cases)
- Hydrops fetalisHPOHP:0001789
- Very frequent (80% to 99% of cases)
- PallorHPOHP:0000980
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- Frequent (30% to 79% of cases)
- OligohydramniosHPOHP:0001562
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- PericarditisHPOHP:0001701
- Occasional (5% to 29% of cases)
Genes
2 genes
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.
- HBA1; HBA2HGNC:4824
- Supportive · Orphanet · Autosomal recessive · 2021
- HBA1; HBA2HGNC:4823
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: Hb Bart's hydrops fetalis
- Also called
- alpha-thalassemia hydrops fetalisAlpha-thalassemia majorHaemoglobin Bart's hydrops fetalisHb Bart’s hydrops fetalis caused by quadallelic variation in HBA1;HBA2Hb Bart’s hydrops fetalis related to quadallelic variation in HBA1 and HBA2HBA1;HBA2 digenic quadallelic Hb Bart’s hydrops fetalisHemoglobin Bart's hydrops fetalishomozygous alpha0-thalassemia