Details of Disease | DrugMAP

General Information of Disease (ID: DIS6CWYR)

Disease Name	Delta-beta-thalassemia
Definition	Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
Disease Hierarchy	DISQEXHO: Beta-thalassemia and related diseases DIS6CWYR: Delta-beta-thalassemia
Disease Identifiers	MONDO ID MONDO_0016489 MESH ID C562716 UMLS CUI C0271985 MedGen ID 78790 Orphanet ID 231237 SNOMED CT ID 16360009

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]
HBA2	TTQO71U	Strong	Genetic Variation	[2]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HBB	OT514IKQ	Supportive	Autosomal recessive	[1]
HBD	OTRQG4WA	Supportive	Autosomal recessive	[3]
HBG1	OTVL4NSU	Supportive	Autosomal recessive	[1]
HBA1	OTW2BQF4	Strong	Genetic Variation	[2]
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References

1	Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. Hemoglobin. 2008;32(5):425-33. doi: 10.1080/03630260802341687.
2	Rapid detection of Spanish (delta beta)zero-thalassemia deletion by polymerase chain reaction.Blood. 1992 Sep 15;80(6):1582-5.
3	A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin. Hum Mutat. 1992;1(2):169-71. doi: 10.1002/humu.1380010215.