Details of Disease | DrugMAP

General Information of Disease (ID: DISU3KCF)

Disease Name	Hb Bart's hydrops fetalis
Synonyms	Haemoglobin Bart's hydrops fetalis; Alpha-thalassemia major; Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; homozygous alpha0-thalassemia
Definition	Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.
Disease Hierarchy	DISPUY8C: Non-immune hydrops fetalis DIS5XGK0: Alpha thalassemia DISU3KCF: Hb Bart's hydrops fetalis
Disease Identifiers	MONDO ID MONDO_0015579 UMLS CUI C0272005 MedGen ID 543726 SNOMED CT ID 5300004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBA2	TTQO71U	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HBA2	OTW2BQF4	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.