Details of Disease

General Information of Disease (ID: DISCT4GX)

• Disease Name: Hemoglobinopathy
• Synonyms: globin abnormality; hemoglobin disease; haemoglobin disease; haemoglobin disorder; hemoglobin disorder; hemoglobinopathy
• Disease Hierarchy:
  DISWD40R: Disease
  DISDMSC5: Erythrocyte disorder
  DISCT4GX: Hemoglobinopathy
• Disease Identifiers:
  MONDO ID: MONDO_0044348
  MESH ID: D006453
  UMLS CUI: C0019045
  MedGen ID: 42400
  SNOMED CT ID: 80141007

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Pegfilgrastim	DM7UP8X	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BCL11A	TTR61MW	Limited	Altered Expression	[2]
EIF2AK1	TTRUJBV	Limited	Biomarker	[3]
HBA2	TTQO71U	moderate	Genetic Variation	[4]
HBB	TTM6HK1	Strong	Genetic Variation	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAS2	DE437BY	Limited	Genetic Variation	[6]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AADAC	OT8VACT2	Limited	Biomarker	[7]
EVA1C	OT18YR25	Limited	Biomarker	[8]
FBXW4	OTEGSZOX	Limited	Biomarker	[7]
FUT1	OTODG57A	Limited	Genetic Variation	[9]
HBZ	OTMHGFSS	Limited	Biomarker	[10]
HUNK	OTZR4GBH	Limited	Biomarker	[8]
RHBDF1	OTCQ7UDS	Limited	Genetic Variation	[11]
KLF1	OT1FK08U	Disputed	Genetic Variation	[12]
HBA1	OTW2BQF4	moderate	Genetic Variation	[4]
HBG1	OTVL4NSU	moderate	Altered Expression	[13]
GYPB	OTESHUIX	Strong	Genetic Variation	[14]
GYPE	OTBHAG6A	Strong	Genetic Variation	[14]
HBD	OTRQG4WA	Strong	Genetic Variation	[15]
HBG2	OT4J48JJ	Strong	Genetic Variation	[16]

References

• [1] A standard database for drug repositioning. Sci Data. 2017 Mar 14;4:170029.
• [2] Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1620-5. doi: 10.1073/pnas.0711566105. Epub 2008 Feb 1.
• [3] Domain-focused CRISPR screen identifies HRI as a fetal hemoglobin regulator in human erythroid cells.Science. 2018 Jul 20;361(6399):285-290. doi: 10.1126/science.aao0932.
• [4] Atypical Prenatal Ultrasound Presentation and Neuropathological Findings in a Neonate With Alpha Thalassemia Major: A Case Report.Pediatr Dev Pathol. 2019 Mar-Apr;22(2):166-170. doi: 10.1177/1093526618817655. Epub 2018 Dec 14.
• [5] Synergistic Effect of Simvastatin and Romidepsin on Gamma-globin Gene Induction.Cell J. 2019 Jan;20(4):576-583. doi: 10.22074/cellj.2019.5589. Epub 2018 Aug 1.
• [6] Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.Blood Cells Mol Dis. 2005 May-Jun;34(3):226-8. doi: 10.1016/j.bcmd.2005.01.001.
• [7] In vivo effects of decitabine in myelodysplasia and acute myeloid leukemia: review of cytogenetic and molecular studies.Ann Hematol. 2005 Dec;84 Suppl 1:32-8. doi: 10.1007/s00277-005-0004-1.
• [8] Persistent B19 infection in immunocompetent individuals: implications for transfusion safety.Blood. 2005 Oct 15;106(8):2890-5. doi: 10.1182/blood-2005-03-1053. Epub 2005 Jun 23.
• [9] High-Efficiency Lentiviral Transduction of Human CD34(+) Cells in High-Density Culture with Poloxamer and Prostaglandin E2.Mol Ther Methods Clin Dev. 2019 Jan 25;13:187-196. doi: 10.1016/j.omtm.2019.01.005. eCollection 2019 Jun 14.
• [10] Screening of (-SEA) -thalassaemia using an immunochromatographic strip assay for the -globin chain in a population with a high prevalence and heterogeneity of haemoglobinopathies.J Clin Pathol. 2017 Jan;70(1):63-68. doi: 10.1136/jclinpath-2016-203765. Epub 2016 Jun 16.
• [11] Construction and expression of a recombinant adeno-associated virus that harbors a human beta-globin-encoding cDNA.Gene. 1991 Aug 15;104(2):253-7. doi: 10.1016/0378-1119(91)90258-d.
• [12] Differential role of Kruppel like factor 1 (KLF1) gene in red blood cell disorders.Genomics. 2019 Dec;111(6):1771-1776. doi: 10.1016/j.ygeno.2018.11.032. Epub 2018 Dec 5.
• [13] The effect of histone deacetylase inhibitors on AHSP expression.PLoS One. 2018 Feb 1;13(2):e0189267. doi: 10.1371/journal.pone.0189267. eCollection 2018.
• [14] DNA array analysis for red blood cell antigens facilitates the transfusion support with antigen-matched blood in patients with sickle cell disease.Vox Sang. 2009 Aug;97(2):147-52. doi: 10.1111/j.1423-0410.2009.01185.x. Epub 2009 Apr 8.
• [15] Delta globin gene variations leading to reduction in HbA(2) levels.Int J Lab Hematol. 2016 Dec;38(6):610-615. doi: 10.1111/ijlh.12548. Epub 2016 Jul 27.
• [16] Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.Ann Hematol. 2019 Jul;98(7):1537-1545. doi: 10.1007/s00277-019-03696-w. Epub 2019 Apr 25.