Details of Disease | DrugMAP

General Information of Disease (ID: DISQS5PK)

Disease Name	Dominant beta-thalassemia
Synonyms	dyserythropoietic Anemia, congenital, Irish or Weatherall type; beta-thalassemia, dominant inclusion body type; inclusion body beta-thalassemia; thalassemia-beta, dominant inclusion-body
Definition	Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.
Disease Hierarchy	DIS5RCQK: Beta thalassemia DISQS5PK: Dominant beta-thalassemia
Disease Identifiers	MONDO ID MONDO_0011381 MESH ID C565834 UMLS CUI C1858990 OMIM ID 603902 MedGen ID 347036 Orphanet ID 231226 SNOMED CT ID 716682000

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	Strong	GermlineCausalMutation	[1]
HBB	TTM6HK1	Definitive	Autosomal dominant	[2]
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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	Definitive	Autosomal dominant	[2]
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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.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.