Details of Disease | DrugMAP

General Information of Disease (ID: DISPVNTG)

Disease Name	Hemoglobin C disease
Synonyms	Hb C disease; Hb-C disease
Definition	Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
Disease Hierarchy	DISI8W45: Anaemia DISGK35P: Inherited hemoglobinopathy DISPVNTG: Hemoglobin C disease
Disease Identifiers	MONDO ID MONDO_0016242 MESH ID D006445 UMLS CUI C0019021 MedGen ID 6789 Orphanet ID 2132 SNOMED CT ID 51053007

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.