Details of Disease

General Information of Disease (ID: DIS76XZB)

Disease Name	Thalassemia
Synonyms	thalassemia Hb-S disease without crisis; thalassemia Hb-S disease with crisis; sickle-cell thalassemia without crisis; sickle-cell thalassemia with crisis
Disease Class	3A50: Thalassaemia
Definition	An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
Disease Hierarchy	DISGK35P: Inherited hemoglobinopathy DIS76XZB: Thalassemia
ICD Code	ICD-11 ICD-11: 3A50 Expand ICD-11 '3A50 Expand ICD-10 'D56; 'D56.8; 'D56.9
Disease Identifiers	MONDO ID MONDO_0000984 MESH ID D013789 UMLS CUI C0039730 MedGen ID 21121 SNOMED CT ID 40108008

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Deferiprone	DMS2M7O	Approved	Small molecular drug	[1]
Pegfilgrastim	DM7UP8X	Approved	Small molecular drug	[2]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
M012	DME6UNO	Phase 1	Small molecular drug	[3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 14 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACVR2B	TTLFRKS	Limited	Biomarker	[4]
EGLN2	TTMHFRY	Limited	Biomarker	[5]
NAAA	TTMN4HY	Limited	Biomarker	[6]
PGD	TTZ3IFB	Limited	Genetic Variation	[7]
PRG4	TTSKF4V	Limited	Biomarker	[8]
SLC40A1	TT6Y1PG	Limited	Altered Expression	[9]
BCL11A	TTR61MW	Strong	Biomarker	[10]
G6PD	TTKN8W0	Strong	Genetic Variation	[11]
GDF15	TT4MXVG	Strong	Altered Expression	[12]
HAMP	TTRV5YJ	Strong	Altered Expression	[13]
IFNL3	TTRF4Q2	Strong	Genetic Variation	[14]
LNPEP	TTY2KP7	Strong	Genetic Variation	[15]
SCT	TTOBVIN	Strong	Biomarker	[16]
TMPRSS6	TTL9KE7	Strong	Altered Expression	[17]
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⏷ Show the Full List of 14 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	Strong	Genetic Variation	[18]
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This Disease Is Related to 4 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGT1A10	DEL5N6Y	Limited	Genetic Variation	[19]
UGT1A4	DELOY3P	Limited	Genetic Variation	[19]
UGT1A8	DE2GB8N	Limited	Genetic Variation	[19]
FXN	DEXVHDB	Strong	Biomarker	[20]
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This Disease Is Related to 26 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD1B	OT4D5EG7	Limited	Altered Expression	[21]
CD1C	OT4XINUJ	Limited	Altered Expression	[21]
CHMP2B	OTZA7RJB	Limited	Biomarker	[22]
DLX4	OTLWVCN4	Limited	Biomarker	[23]
DNTT	OTFSEF12	Limited	Biomarker	[24]
HPX	OT14T7Q1	Limited	Biomarker	[25]
LILRA5	OT5Q24MV	Limited	Genetic Variation	[26]
NPRL3	OTS4HE8E	Limited	Biomarker	[27]
PHC1	OT1JMX8U	Limited	Biomarker	[5]
RHCE	OTS18IZ5	Limited	Genetic Variation	[28]
CAP1	OTYM8A2N	Strong	Genetic Variation	[15]
CD177	OTS79FNF	Strong	Altered Expression	[29]
GATA1	OTX1R7O1	Strong	Genetic Variation	[30]
HACD1	OTEC7EP7	Strong	Genetic Variation	[15]
HBA1	OTW2BQF4	Strong	Genetic Variation	[31]
HBD	OTRQG4WA	Strong	Genetic Variation	[32]
HBD	OTRQG4WA	Strong	Genetic Variation	[15]
HBG1	OTVL4NSU	Strong	Biomarker	[33]
HBG2	OT4J48JJ	Strong	Biomarker	[34]
HBS1L	OTA3U1N6	Strong	Genetic Variation	[35]
HBZ	OTMHGFSS	Strong	Biomarker	[36]
KLF1	OT1FK08U	Strong	Altered Expression	[37]
RAD21	OTQS84ZF	Strong	Biomarker	[38]
SERPINB6	OT7G55IK	Strong	Genetic Variation	[15]
SORBS1	OTWH8762	Strong	Genetic Variation	[15]
PMCH	OT3D9SA4	Definitive	Genetic Variation	[39]
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⏷ Show the Full List of 26 DOT(s)

References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7456).
2	Evaluating the safety and effectiveness of PegaGen(?) (pegfilgrastim) for the prevention of chemotherapy-induced febrile neutropenia: a post-marketing surveillance study. Support Care Cancer. 2022 Oct;30(10):8151-8158.
3	Targeting iron metabolism in drug discovery and delivery. Nat Rev Drug Discov. 2017 Jun;16(6):400-423.
4	Modified activin receptor IIB ligand trap mitigates ineffective erythropoiesis and disease complications in murine -thalassemia.Blood. 2014 Jun 19;123(25):3864-72. doi: 10.1182/blood-2013-06-511238. Epub 2014 May 2.
5	Beta thalassemic mutations recognized by DNA mapping with Hph I and Rsa I in the Algerian population.Biochem Biophys Res Commun. 1983 May 31;113(1):269-72. doi: 10.1016/0006-291x(83)90461-8.
6	Performance Evaluation of Automated Impedance and Optical Fluorescence Platelet Counts Compared With International Reference Method in Patients With Thalassemia.Arch Pathol Lab Med. 2017 Jun;141(6):830-836. doi: 10.5858/arpa.2016-0222-OA. Epub 2017 Apr 12.
7	An evaluation of PGD in clinical genetic services through 3 years application for prevention of beta-thalassaemia major and sickle cell thalassaemia.Mol Hum Reprod. 2003 May;9(5):301-7. doi: 10.1093/molehr/gag038.
8	Impact of war on child health in northern Syria: the experience of Mdecins Sans Frontires.Eur J Pediatr. 2018 Mar;177(3):371-380. doi: 10.1007/s00431-017-3057-y. Epub 2017 Dec 19.
9	The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients.Haematologica. 2004 Apr;89(4):490-2.
10	The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background.Blood Cells Mol Dis. 2013 Aug;51(2):80-4. doi: 10.1016/j.bcmd.2013.02.007. Epub 2013 Mar 28.
11	Analysis of genotype distribution of thalassemia and G6PD deficiency among Hakka population in Meizhou city of Guangdong Province.J Clin Lab Anal. 2020 Apr;34(4):e23140. doi: 10.1002/jcla.23140. Epub 2019 Dec 3.
12	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.
13	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.
14	Interferon 3 gene (IL28B) is associated with spontaneous or treatment-induced viral clearance in hepatitisC virus-infected multitransfused patients with thalassemia.Transfusion. 2017 Jun;57(6):1376-1384. doi: 10.1111/trf.14070. Epub 2017 Apr 16.
15	Borderline hemoglobin A(2) levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia.Blood Cells Mol Dis. 2019 Feb;74:13-17. doi: 10.1016/j.bcmd.2018.10.002. Epub 2018 Oct 4.
16	Effect of Previous Exposure to Malaria on Blood Pressure in Kilifi, Kenya: A Mendelian Randomization Study.J Am Heart Assoc. 2019 Mar 19;8(6):e011771. doi: 10.1161/JAHA.118.011771.
17	Design and chemical syntheses of potent matriptase-2 inhibitors based on trypsin inhibitor SFTI-1 isolated from sunflower seeds.Biopolymers. 2017 Nov;108(6). doi: 10.1002/bip.23031.
18	Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies.Am J Hematol. 2008 Jun;83(6):465-71. doi: 10.1002/ajh.21151.
19	Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis.World J Gastroenterol. 2005 Sep 28;11(36):5710-3. doi: 10.3748/wjg.v11.i36.5710.
20	Keeping heart homeostasis in check through the balance of iron metabolism.Acta Physiol (Oxf). 2020 Jan;228(1):e13324. doi: 10.1111/apha.13324. Epub 2019 Jun 19.
21	Upregulation and atypical expression of the CD1 molecules on monocytes in sickle cell disease.Hum Immunol. 2004 Nov;65(11):1370-6. doi: 10.1016/j.humimm.2004.09.009.
22	Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency.Blood. 2008 Sep 1;112(5):2089-91. doi: 10.1182/blood-2008-05-154740. Epub 2008 Jul 2.
23	BP1 is a negative modulator of definitive erythropoiesis.Nucleic Acids Res. 2006;34(18):5232-7. doi: 10.1093/nar/gkl680. Epub 2006 Sep 26.
24	Beyond transfusion therapy: new therapies in thalassemia including drugs, alternate donor transplant, and gene therapy.Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):361-370. doi: 10.1182/asheducation-2018.1.361.
25	Quantitative proteomics of plasma vesicles identify novel biomarkers for hemoglobin E/-thalassemic patients.Blood Adv. 2018 Jan 23;2(2):95-104. doi: 10.1182/bloodadvances.2017011726.
26	First report on the co-inheritance of (beta) IVS I-1 (G-->T) Thalassemia with the (gamma) CD85 [Phe-->Ser (F1) (TTT-->TCT)] HbA2 Etolia in Iran.Haematologica. 2006 Jun;91(6 Suppl):ECR15.
27	Genetic determinants of haemolysis in sickle cell anaemia.Br J Haematol. 2013 Apr;161(2):270-8. doi: 10.1111/bjh.12245. Epub 2013 Feb 14.
28	Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis of 36 blood group alleles among 396 Thai samples reveals region-specific variants.Transfusion. 2018 Jul;58(7):1752-1762. doi: 10.1111/trf.14624. Epub 2018 Apr 15.
29	Increased CD177 (PRV1) expression in thalassaemia and the underlying erythropoietic activity.Br J Haematol. 2008 Apr;141(1):100-4. doi: 10.1111/j.1365-2141.2008.06993.x.
30	Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome".Blood. 2007 Oct 1;110(7):2770-1; author reply 2771. doi: 10.1182/blood-2007-03-080978.
31	Prenatal diagnosis of - and -thalassemias in southern Thailand.Int J Hematol. 2020 Feb;111(2):284-292. doi: 10.1007/s12185-019-02761-4. Epub 2019 Oct 28.
32	Analysis of deletional hereditary persistence of fetal hemoglobin/-thalassemia and -globin gene mutations in Southerwestern China.Mol Genet Genomic Med. 2019 Jun;7(6):e706. doi: 10.1002/mgg3.706. Epub 2019 May 1.
33	A Novel BaEVRless-Pseudotyped -Globin Lentiviral Vector Drives High and Stable Fetal Hemoglobin Expression and Improves Thalassemic Erythropoiesis In Vitro.Hum Gene Ther. 2019 May;30(5):601-617. doi: 10.1089/hum.2018.022. Epub 2019 Mar 15.
34	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.
35	Genetic and phenotypic analysis of a rare asymptomatic case of a homozygous Chinese (G)(+)((A))(0)-thalassemia deletion in a Chinese family.Clin Biochem. 2020 Feb;76:11-16. doi: 10.1016/j.clinbiochem.2019.11.003. Epub 2019 Nov 22.
36	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.
37	Genetic variation of Krppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in (0)-thalassemia/HbE disease.Int J Hematol. 2018 Mar;107(3):297-310. doi: 10.1007/s12185-017-2357-3. Epub 2017 Oct 24.
38	Full karyotyping, rapid aneuploidy diagnosis or both when invasive prenatal testing is performed for diagnosis of thalassaemia?.Mol Hum Reprod. 2006 Jan;12(1):55-9. doi: 10.1093/molehr/gal003. Epub 2006 Jan 18.
39	Shine & Lal index as a predictor for early detection of -thalassemia carriers in a limited resource area in Bandung, Indonesia.BMC Med Genet. 2019 Aug 9;20(1):136. doi: 10.1186/s12881-019-0868-x.