hemoglobin H disease
MONDO:0013512Mondo
Findings
No curated finding names hemoglobin H disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).
Definition from the Mondo Disease Ontology (MONDO:0013512), read 2026-09-29. CC BY 4.0.
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
- A kind of
Other names
9 names
Resolves to: hemoglobin H disease
- Also called
- Alpha-thalassemia intermediahaemoglobin H disease, deletional and nondeletionalHBA1;HBA2 digenic triallelic hemoglobin H diseaseHBHHbH diseasehemoglobin H disease caused by triallelic variation in HBA1;HBA2hemoglobin H disease related to triallelic variation in HBA1 and HBA2hemoglobin H disease, deletionalhemoglobin H disease, deletional and nondeletional