Details of Disease | DrugMAP

General Information of Disease (ID: DISL5FCO)

Disease Name	Hemoglobin C-beta-thalassemia syndrome
Synonyms	HBC-beta-thalassemia syndrome; C-beta-thalassemia
Definition	Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.
Disease Hierarchy	DISQEXHO: Beta-thalassemia and related diseases DISL5FCO: Hemoglobin C-beta-thalassemia syndrome
Disease Identifiers	MONDO ID MONDO_0016490 UMLS CUI C0221020 MedGen ID 526128 Orphanet ID 231242 SNOMED CT ID 61777009

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
HBB	TTM6HK1	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
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.