Details of Disease | DrugMAP

General Information of Disease (ID: DISYQ0NL)

Disease Name	Beta-thalassemia intermedia
Definition	Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
Disease Hierarchy	DISOIXFU: Beta-thalassemia HBB/LCRB DISYQ0NL: Beta-thalassemia intermedia
Disease Identifiers	MONDO ID MONDO_0016487 UMLS CUI C0472767 MedGen ID 450544 Orphanet ID 231222 SNOMED CT ID 191189009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EIF2AK1	TTRUJBV	Limited	Altered Expression	[1]
SLC12A6	TT8DFHE	Limited	Biomarker	[2]
HBB	TTM6HK1	Disputed	Genetic Variation	[3]
HBB	TTM6HK1	Supportive	Autosomal recessive	[4]
HAMP	TTRV5YJ	Strong	Biomarker	[5]
HBA2	TTQO71U	Strong	Biomarker	[6]
TMPRSS6	TTL9KE7	Strong	Altered Expression	[7]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HBD	OTRQG4WA	Limited	Biomarker	[8]
KLF10	OT4F4UGS	Limited	Genetic Variation	[9]
TFR2	OTMYCCEO	Limited	Genetic Variation	[10]
HBB	OT514IKQ	Supportive	Autosomal recessive	[4]
HBA1	OTW2BQF4	Strong	Biomarker	[6]
HBG1	OTVL4NSU	Strong	Altered Expression	[11]
HBG2	OT4J48JJ	Strong	Biomarker	[12]
HBS1L	OTA3U1N6	Strong	Genetic Variation	[13]
MPP1	OTA2ENZQ	Strong	Biomarker	[12]
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⏷ Show the Full List of 9 DOT(s)

References

1	Heme-regulated eIF2 kinase in erythropoiesis and hemoglobinopathies.Blood. 2019 Nov 14;134(20):1697-1707. doi: 10.1182/blood.2019001915.
2	Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia.Blood Cells Mol Dis. 2020 Mar;81:102389. doi: 10.1016/j.bcmd.2019.102389. Epub 2019 Nov 25.
3	Hb Knossos (HBB: c.82G?T), -globin CD 5 (-CT) (HBB: c.17_18delCT) and -globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with -thalassemia intermedia.BMC Pediatr. 2019 Feb 18;19(1):61. doi: 10.1186/s12887-019-1435-5.
4	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.
5	Imbalance of erythropoiesis and iron metabolism in patients with thalassemia.Int J Med Sci. 2019 Jan 1;16(2):302-310. doi: 10.7150/ijms.27829. eCollection 2019.
6	Genotype-phenotype association analysis identifies the role of globin genes in modulating disease severity of thalassaemia intermedia in Sri Lanka.Sci Rep. 2019 Jul 12;9(1):10116. doi: 10.1038/s41598-019-46674-y.
7	RNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of -thalassemia intermedia.Am J Hematol. 2018 Jun;93(6):745-750. doi: 10.1002/ajh.25079. Epub 2018 Mar 23.
8	In vivo activation of the human -globin gene: the therapeutic potential in -thalassemic mice.Haematologica. 2014 Jan;99(1):76-84. doi: 10.3324/haematol.2012.082768. Epub 2013 Jul 19.
9	Klf10 Gene, a Secondary Modifier and a Pharmacogenomic Biomarker of Hydroxyurea Treatment Among Patients With Hemoglobinopathies.J Pediatr Hematol Oncol. 2017 Apr;39(3):e155-e162. doi: 10.1097/MPH.0000000000000762.
10	A competitive enzyme-linked immunosorbent assay specific for murine hepcidin-1: correlation with hepatic mRNA expression in established and novel models of dysregulated iron homeostasis.Haematologica. 2015 Feb;100(2):167-77. doi: 10.3324/haematol.2014.116723. Epub 2014 Nov 25.
11	Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1.Am J Hematol. 2007 Nov;82(11):1005-9. doi: 10.1002/ajh.20979.
12	Optimal Reference Gene Selection for Expression Studies in Human Reticulocytes.J Mol Diagn. 2018 May;20(3):326-333. doi: 10.1016/j.jmoldx.2018.01.009. Epub 2018 Feb 21.
13	The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients.Blood Cells Mol Dis. 2010 Aug 15;45(2):124-7. doi: 10.1016/j.bcmd.2010.04.002. Epub 2010 May 15.