Details of Disease | DrugMAP

General Information of Disease (ID: DIST2GQ9)

Disease Name	Hemoglobin E-beta-thalassemia syndrome
Synonyms	E-beta-thalassemia; HbE-beta-thalassemia syndrome
Definition	Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.
Disease Hierarchy	DISQEXHO: Beta-thalassemia and related diseases DIST2GQ9: Hemoglobin E-beta-thalassemia syndrome
Disease Identifiers	MONDO ID MONDO_0016491 UMLS CUI C0472777 MedGen ID 632783 Orphanet ID 231249 SNOMED CT ID 234392002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBB	TTM6HK1	Supportive	Autosomal recessive	[1]
HBB	TTM6HK1	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HBB	OT514IKQ	Supportive	Autosomal recessive	[1]
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References

1	Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Dtsch Arztebl Int. 2011 Aug;108(31-32):532-40. doi: 10.3238/arztebl.2011.0532. Epub 2011 Aug 8.