Beta Thalassemia malady

NIH Rare Diseases: Beta-thalassemia is a blood disorder that reduces the production of hemoglobin. Without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells, leading to anemia and other health problems. Severe beta-thalassemia is called “thalassemia major” or “Cooley’s anemia.” Thalassemia intermedia is the less severe form. Mutations in the HBB gene cause beta-thalassemia. This condition is usually inherited in an autosomal recessive fashion, which means people with beta thalassemia have mutations in both of their HBB genes. People who have only one HBB mutation may have no symptoms or develop mild symptoms; these individuals are said to have thalassemia minor.³⁰

MalaCards: Beta Thalassemia, also known as mediterranean anemia, is related to hemoglobin s beta-thalassemia and alpha thalassemia. An important gene associated with Beta Thalassemia is HBG1 (hemoglobin, gamma A), and among its related pathways are O2/CO2 exchange in erythrocytes and Factors involved in megakaryocyte development and platelet production. The drug phenylbutyrate sodium and the compounds cyclophosphamide and citrate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and liver, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Genetics Home Reference: Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.¹⁷

Wikipedia: Beta-thalassemias (β-thalassemias) are a group of inherited blood disorders caused by reduced or absent...⁴⁴ more...

OMIM: 604131

GeneReviews summary for b-thal

Aliases & Descriptions:

beta thalassemia 6 17 8 43 mediterranean anemia 44 15 30 16 17 beta-thalassemia 44 15 30 16 32 cooley's anemia 44 15 30 16 43 thalassemia intermedia 44 30 16 43 thalassemia major 44 30 16 32 erythroblastic anemia 44 30 17 beta thalassemia minor 30 16 beta thalassemia major 30 16 thalassemia minor 30 16

heterozygous beta-thalassemia 16 beta thalassemia heterozygous 32 beta thalassemia intermedia 30 microcytemia, beta type 17 thalassemia, beta type 17 intermedia thalassemia 32 thalassemias, beta- 33 thalassemia-beta 7 thalassemia 43

Disease types for beta thalassemia family:

alpha thalassemia	thalassemia

Diseases related to beta thalassemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 820)

id	Related Disease	Score	Top Affiliating Genes
1	hemoglobin s beta-thalassemia	33.7	G6PD, HBB, HBD, HBE1, HBG1, HBG2
2	alpha thalassemia	33.3	UGT1A1, G6PD, HBA1, HBA2, HBB, HBG1
3	hemochromatosis	32.9	B2M, IREB2, HP, ACO1, HFE, HFE2
4	hereditary persistence of fetal hemoglobin	32.3	KLF1, BCL11A, HBB, HBD, HBE1, HBG1
5	hemoglobinopathy	31.6	KLF1, BCL11A, UGT1A1, HP, G6PD, HBA1
6	hypochromic anemia	31.0	HBA1, HBB, TF, TFRC
7	hemoglobin e disease	31.0	F5, F2, HBB
8	hepatitis	30.7	GPT, IFNA1, SLC17A5
9	myelodysplastic syndrome	30.1	KIR3DL1, VDR, GSTM1, GSTT1, IL3, ANXA5
10	gilbert syndrome	29.7	UGT1A, UGT1A1, G6PD
11	osteosclerosis	29.5	BGLAP, IFNA2, ALPP, TNFRSF11B, TNFSF11
12	thrombosis	29.4	MTHFR, F5, F2
13	delayed puberty	29.2	LEP, CGA, IGF1, GNRH1, SHBG
14	turner syndrome	29.1	BGLAP, CGA, IGFBP3, IGF1, SHBG
15	crigler-najjar syndrome	29.0	UGT1A1, F2, ALB, ALPP, CYP3A4, G6PD
16	nephrocalcinosis	28.9	NAGLU, ALB, SPP1, HBA2, HBB, SLC4A1
17	thrombophilia	28.9	SERPINC1, MTHFR, ANXA5, F5, F2, F10
18	iron deficiency anemia	28.7	IREB2, GSR, ALB, CAT, ACO1, G6PD
19	hepatitis c	28.6	GSR, GPT, IFNA1, IFNA2, F2, HP
20	sickle cell anemia	28.2	BCL11A, UGT1A1, MTHFR, IL3, GPT, IGFBP3
21	hypoparathyroidism	28.2	NAGLU, VDR, BGLAP, MTHFR, INS, IGF1
22	iron overload	28.1	NAGLU, VDR, CHIT1, UGT1A1, B2M, IREB2
23	congenital dyserythropoietic anemia	28.1	RHD, HFE, SLC4A1
24	cholelithiasis	27.8	UGT1A1, INS, GPT, F2, HP, ESR1
25	hematopoiesis	27.4	BCL11A, LEP, LCN2, CD4, IREB2, IL3
26	hydrops fetalis	27.3	CGA, ALB, SPTA1, SPTB, RHD, G6PD
27	glucose intolerance	26.9	LEP, INS, GPT, IGFBP3, IGF1, SHBG
28	erythrocytosis	26.7	IL3, IGFBP3, IGF1, IFNA1, F5, HBA2
29	familial hypercholesterolemia	26.6	MTHFR, INS, GPT, IGF1, F2, ALB
30	sickle cell disease	26.2	KLF1, BGLAP, BCL11A, UGT1A1, MTHFR, B2M
31	fanconi's anemia	25.7	INS, GSR, IL3, IGFBP3, IGF1, CAT
32	jaundice	25.4	UGT1A, UGT1A1, GSR, GSTM1, GSTT1, GPT
33	thrombocytopenia	24.9	KLF1, SERPINC1, CHIT1, MTHFR, CD4, INS
34	gingivitis	24.8	BGLAP, B2M, CD151, ITGB1, INS, GSN
35	familial mediterranean fever	24.8	KIR3DL1, SERPINC1, LEP, B2M, GSN, F2
36	hypogonadism	24.6	SERPINC1, VDR, BGLAP, LEP, CGA, INS
37	hypercholesterolemia	24.3	LEP, MTHFR, INS, ENTPD1, GPT, IGF1
38	thalassemia	24.0	KLF1, KLF11, KIR3DL1, SERPINC1, NAGLU, VDR
39	short stature	23.8	VDR, BGLAP, LEP, INS, IGFBP3, IGF1
40	osteoporosis	22.7	SERPINC1, VDR, BGLAP, LEP, MTHFR, B2M
41	anemia	22.0	KLF1, SERPINC1, NAGLU, VDR, BCL11A, LEP
42	periodontitis	21.8	VDR, BGLAP, MTHFR, CD4, ITGB1, INS
43	insulin resistance	21.7	KLF11, NAGLU, VDR, BGLAP, LEP, LCN2
44	malaria	21.4	SERPINC1, CHIT1, B2M, CD4, IREB2, INS
45	schizophrenia	21.2	VDR, PALLD, LEP, UGT1A1, MTHFR, B2M
46	nephropathy	20.3	NAGLU, VDR, LEP, LCN2, MTHFR, B2M
47	nephrotic syndrome	20.3	SERPINC1, NAGLU, LEP, B2M, ITGB1, INS
48	cerebritis	17.7	SERPINC1, NAGLU, BGLAP, LEP, LCN2, MTHFR
49	blindness	17.5	SERPINC1, VDR, BGLAP, LEP, UGT1A1, LCN2
50	hypertension	17.5	SERPINC1, NAGLU, VDR, BGLAP, LEP, CHIT1

Clinical features from OMIM: 604131

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 phenylbutyrate sodium

Genetic tests related to beta thalassemia:

id	Genetic test	Affiliating Genes
1	Beta Thalassemia clinical/research	HBB, HBD

MalaCards organs/tissues related to beta thalassemia:

²²

MGI Mouse Phenotypes related to beta thalassemia:

²⁵ (show all 21)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	10.2	GATA1, SPTA1, TPH1, ENTPD1, GSN
2	endocrine/exocrine gland phenotype	MP:0005379	9.9	GSN, GNRH1, CYP1A2, SPTBN1
3	hematopoietic system phenotype	MP:0005397	9.6	SPTB, SPTA1, TNFSF11, HLA-DQB1, HLA-C, CALCR
4	integument phenotype	MP:0010771	9.2	SPTBN1, SPTA1, COL1A1, HBA2, HBB, HFE2
5	liver/biliary system phenotype	MP:0005370	9.1	GATA1, KLF1, SERPINC1, IREB2, EPO, SOD1
6	hearing/vestibular/ear phenotype	MP:0005377	9.1	SLC17A5, SOD1, ACTG1, COL1A1, SPTBN1, TNFRSF11B
7	reproductive system phenotype	MP:0005389	8.9	SPTBN1, SPTA1, SPP1, SPTB, HBA1, HBB
8	immune system phenotype	MP:0005387	8.9	TERT, HLA-DQB1, HLA-C, CALCR, GNRH1, F2
9	renal/urinary system phenotype	MP:0005367	8.6	SPTA1, SPTB, NT5E, HBB, HFE2, SLC4A1
10	normal phenotype	MP:0002873	7.7	HBB, ACO1, COL1A1, TERT, HLA-DQB1, HBE1
11	muscle phenotype	MP:0005369	7.6	SPP1, COL1A1, ACTG1, HBA2, SOD1, CST3
12	tumorigenesis	MP:0002006	7.3	ESR1, TERT, CYP1A2, CYP2E1, SPTBN1, SPP1
13	digestive/alimentary phenotype	MP:0005381	7.2	TERT, SPTBN1, SPTA1, COL1A1, ACTG1, HFE
14	skeleton phenotype	MP:0005390	7.0	ESR1, TNFRSF11B, TNFSF11, TERT, SP1, SPTA1
15	nervous system phenotype	MP:0003631	7.0	HLA-DQB1, TERT, SPTA1, SPP1, SPTB, COL1A1
16	growth/size phenotype	MP:0005378	6.9	HFE, HBB, HBA2, ACTG1, COL1A1, SPTB
17	behavior/neurological phenotype	MP:0005386	6.8	CYP2E1, SPTA1, SPP1, NT5E, COL1A1, ACTG1
18	mortality/aging	MP:0010768	6.4	GATA1, SPTB, SPTA1, SPTBN1, SP1, CYP2E1
19	cardiovascular system phenotype	MP:0005385	5.3	NAGLU, SERPINC1, VDR, GATA1, EPO, SLC4A1
20	cellular phenotype	MP:0005384	5.2	COL1A1, SPP1, SPTA1, SPTBN1, TERT, TNFSF11
21	homeostasis/metabolism phenotype	MP:0005376	3.2	PSMC1, SPP1, SPTA1, SP1, CYP2E1, CYP1A2

Articles related to beta thalassemia:

(show top 50)    (show all 325)

id	Title	Authors	Year	Affiliating Genes
1	Analysis of alpha-hemoglobin-stabilizing protein (AHS P) gene as a genetic modifier to the phenotype of beta-thalassemia in Southern China. (20627634)	Wang Z.... Xu X.	2010	AHSP
2	Glutathione S-transferase gene deletions and their ef fect on iron status in HbE/beta thalassemia patients. (19838709)	Sharma V.... Saxena R.	2010	GSTT1, GSTM1
3	Molecular analysis of gamma-globin promoters, HS-111 and 3'HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F. (19958188)	Hamid M.... Karimipoor M.	2009	HBG1
4	Alpha globin gene numbers: an important modifier of H bE/beta thalassemia. (19843387)	Sharma V.... Saxena R.	2009	HBA1, HBB, HBA2
5	Acute splenic infarct in beta-thalassemia minor: a no vel combination of heterozygous beta-globin mutations with latent phenotypes an d the clinical implications. (19657842)	Liaw D.C.... Kender M.A.	2009	HBB
6	Identification of a novel frameshift mutation at codon 53 (-T) in the beta-globin gene causing dominantly inherited beta-thalassemia in a Chinese Miao family. (18381244)	Yi P.... Xu X.	2008	HBB
7	{beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15. (18413893)	Chang J.G.... Liu T.C.	2008	HBB
8	Association between promoter and coding region mutations of UDP-glucuronosyltransferase 1A1 and beta-thalassemia/Hb E with cholelithiasis. (18081723)	Tankanitlert J.... Chantharaksri U.	2008	UGT1A1
9	The molecular heterogeneity of beta-thalassemia in Greece. (18096416)	Boussiou M.... Loutradi-Anagnostou A.	2008	HBB
10	Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or beta-thalassemia and in compound heterozygotes for HbE/beta-thalassemia. (18842790)	Zimmermann M.B.... Hurrell R.F.	2008	GDF15
11	THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele. (18473247)	Schmugge M.... Frischknecht H.	2008	HBB
12	Liver iron concentrations and urinary hepcidin in beta-thalassemia. (17488680)	Origa R.... Nemeth E.	2007	TFRC, HAMP
13	A novel mutation of -73(A-->T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia. (17516066)	Chen X.W.... Xu X.M.	2007	HBB
14	A review of cis-trans interplay between DNA sequences 5' to the (G)gamma- and beta-globin genes among Hb F-Malta-I heterozygotes/homozygotes and beta-thalassemia homozygotes/compound heterozygotes, and the effects of hydroxyurea on the Hb F/F-erythrocyte; the need for large multicenter trials. (17486512)	Felice A.E.... Scerri C.A.	2007	HBG1
15	The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians. (17900295)	Garewal G.... Marwaha R.K.	2007	CAP1
16	Arterial ischemic stroke in a child with beta-thalassemia trait and methylentetrahydrofolate reductase mutation. (17621484)	Brankovic-Sreckovic V.... Pavlovic S.	2007	MTHFR
17	Bone metabolism and mineral density in patients with beta-thalassemia major. (17768474)	Dundar U.... Gultekin M.	2007	IGF1, IGFBP3
18	Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression. (17613866)	Jenkins Z.A.... Theil E.C.	2007	ACO1, IREB2, HAMP
19	Markers of bone metabolism in eugonadal female patients with beta-thalassemia major. (17786784)	Angelopoulos N.G.... Tolis G.	2007	TNFSF11, TNFRSF11B
20	Unbalanced bone turnover in children with beta-thalassemia. (17325962)	Salama O.S.... Eldeen O.A.	2006	BGLAP
21	Partial correction of murine beta-thalassemia with a gammaretrovirus vector for human gamma-globin. (16814578)	Nishino T.... Emery D.W.	2006	HBG1
22	mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models. (16755567)	Weizer-Stern O.... Rechavi G.	2006	TFRC, TFR2
23	Infusion of autologous retrodifferentiated stem cells into patients with beta-thalassemia. (17041717)	Abuljadayel I.S.... Dhoot G.	2006	HBB
24	Damage of iron metabolism and oxidoreduction process in children with beta-thalassemia (16905850)	Mtvarelidze Z.G.... Kvezereli-Kopadze M.N.	2006	CAT
25	Co-inheritance of alpha and beta-thalassemia in a Jordanian family. (16910233)	Al Qaddoumi A.A.	2006	HBA2
26	Fetal Globin Induction--Can It Cure {beta} Thalassemia? (16304357)	Perrine S.P.	2005	EPO, HBA2
27	Molecular heterogeneity of beta-thalassemia in the United Arab Emirates. (15767753)	Baysal E.	2005	HBB
28	Spectrum of beta-thalassemia mutations in North Indian states: a beta-thalassemia trait with two mutations in cis. (15885239)	Chakrabarti P.... Dash D.	2005	HBB
29	Mutations associated with beta-thalassemia intermedia in Kuwait. (16103715)	Adekile A.... Kutlar F.	2005	HBB
30	Heterozygous beta-thalassemia and homozygous H63D hemochromatosis in a child: an 18-year follow-up. (15805002)	Miniero R.... De Gobbi M.	2005	HFE
31	Renal tubular function in children with beta-thalassemia minor. (16221088)	Kalman S.... GAPkAsay E.	2005	B2M
32	Identification of a new delta chain hemoglobin variant in a beta- thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp]. (16370490)	Walker L.... Waye J.S.	2005	HBD
33	Beta-thalassemia mutations and single nucleotide polymorphism at -158 of Ggamma-globin gene associated with altered levels of Hb F in beta-thalassemia heterozygotes (15476181)	Chen J.F.... Chen P.	2004	HBB, HBG2
34	Molecular basis of beta-thalassemia in the population of Tunisia. (15481884)	Fattoum S.... Bibi A.	2004	HBB
35	Comparison of cost effectiveness between measuring the serum erythropoietin level and reticulocyte count for monitoring thalassemic patients: a note in Thai beta thalassemia/Hb E subjects. (15621741)	Wiwanitkit V.	2004	EPO
36	Molecular epidemiological study of alpha- and beta-thalassemia in Sihui city. (12865230)	Tan J.R.... Xu X.M.	2003	HBB
37	Relationship between resistance to erythropoietin and high anomalous hemoglobin levels in hemodialysis patients with beta-thalassemia minor. (14586179)	Di Iorio B.... Bellizzi V.	2003	EPO
38	Dominant beta-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG-->Tg). (11939518)	Waye J.S.... Chui D.H.	2002	HBB
39	Genetic heterogeneity of beta-thalassemia at Cukurova in southern Turkey. (11480785)	Curuk M.A.... Yuregir G.T.	2001	HBB
40	The beta-thalassemia mutation spectrum in the Iranian population. (11570721)	Najmabadi H.... Karimi-Nejad M.H.	2001	HBB
41	Non-anemic homozygous beta(o) thalassemia in an African-American family: association of high fetal hemoglobin levels with beta thalassemia alleles. (11559936)	Divoky V.... Prchal J.T.	2001	HBB, TRIM22
42	Few reports of hemoglobin E/beta-thalassemia in Northeast India: underdiagnosis or complete exclusion of beta-thalassemia by hemoglobin E. (11132230)	Krishnamurti L.	2000	HBB, HBE1
43	Bone mineral density in prepubertal children with beta-thalassemia: correlation with growth and hormonal data. (9591744)	Soliman A.T.... Ansari B.M.	1998	IGF1, IGFBP3
44	Molecular basis of asymptomatic beta-thalassemia major in an African American individual. (9056561)	Ballas S.K.... Chehab F.F.	1997	HBB
45	Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial. (7528572)	Collins A.F.... Dover G.J.	1995	EPO
46	Beta-Thalassemia (20301599)	Cao A.... Galanello R.	1993	HBA1, HBB, HBA2
47	A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype. (1301199)	Murru S.... Cao A.	1992	HBB
48	Characterization and comparison of the red blood cell membrane damage in severe human alpha- and beta-thalassemia. (1737089)	Advani R.... Schrier S.L.	1992	SPTB, HBB, HBA2
49	Sickle cell hemoglobin, beta-thalassemia and G6PD deficiency in tribes of Maharashtra, India. (2129613)	Rao V.R.... Gorakshakar A.C.	1990	G6PD
50	Hemoglobin QIndia, alpha 64 (E13) Asp replaced by His, and beta-thalassemia in a Canadian family. (949043)	Schmidt R.M.... Moo-Penn W.F.	1976	HBA1

Genes related to beta thalassemia according to GeneCards:

(show top 50)    (show all 111)

id	Symbol	Description	Score	GeneCards Section Context
1	HBG1	hemoglobin, gamma A	11.1	Summaries, Publications
2	HBG2	hemoglobin, gamma G	11.1	Summaries, Publications
3	HBD	hemoglobin, delta	11.1	Summaries, Publications
4	HBB	hemoglobin, beta	11.0	Publications
5	GATA1	GATA binding protein 1 (globin transcription factor 1)	11.0	Publications
6	HBA2	hemoglobin, alpha 2	11.0	Publications
7	G6PD	glucose-6-phosphate dehydrogenase	11.0	Publications
8	TFRC	transferrin receptor (p90, CD71)	11.0	Publications
9	HBE1	hemoglobin, epsilon 1	11.0	Publications
10	AHSP	alpha hemoglobin stabilizing protein	11.0	Publications, Functions
11	CHIT1	chitinase 1 (chitotriosidase)	11.0	Publications
12	TFR2	transferrin receptor 2	11.0	Publications
13	KLF1	Kruppel-like factor 1 (erythroid)	11.0	Publications
14	TRIM22	tripartite motif containing 22	11.0	Publications
15	EPO	erythropoietin	11.0	Publications
16	SPTB	spectrin, beta, erythrocytic	11.0	Publications
17	TNFSF11	tumor necrosis factor (ligand) superfamily, member 11	11.0	Publications
18	TNFRSF11B	tumor necrosis factor receptor superfamily, member 11b	11.0	Publications
19	UGT1A1	UDP glucuronosyltransferase 1 family, polypeptide A1	11.0	Publications
20	HFE	hemochromatosis	11.0	Publications
21	RHD	Rh blood group, D antigen	11.0
22	ANXA5	annexin A5	11.0	Publications
23	GSR	glutathione reductase	11.0	Publications
24	TF	transferrin	11.0	Publications
25	F10	coagulation factor X	11.0	Publications
26	HBS1L	HBS1-like (S. cerevisiae)	11.0	Summaries
27	OR52A4	olfactory receptor, family 52, subfamily A, member 4	11.0
28	OPN1MW2	opsin 1 (cone pigments), medium-wave-sensitive 2	11.0
29	KLF11	Kruppel-like factor 11	11.0	Publications
30	HBA1	hemoglobin, alpha 1	11.0	Publications
31	HFE2	hemochromatosis type 2 (juvenile)	11.0	Publications
32	OPN1MW	opsin 1 (cone pigments), medium-wave-sensitive	11.0
33	CAP1	CAP, adenylate cyclase-associated protein 1 (yeast)	11.0	Publications
34	OR51B6	olfactory receptor, family 51, subfamily B, member 6	11.0
35	HAMP	hepcidin antimicrobial peptide	11.0	Publications
36	HMBS	hydroxymethylbilane synthase	11.0	Publications
37	INTS5	integrator complex subunit 5	11.0
38	PROCR	protein C receptor, endothelial	11.0	Publications
39	OR51B2	olfactory receptor, family 51, subfamily B, member 2	11.0
40	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	11.0	Publications
41	EIF2AK1	eukaryotic translation initiation factor 2-alpha kinase 1	11.0	Publications
42	SLC29A1	solute carrier family 29 (nucleoside transporters), member 1	11.0	Publications
43	OPN1LW	opsin 1 (cone pigments), long-wave-sensitive	11.0
44	CD151	CD151 molecule (Raph blood group)	11.0
45	GDF15	growth differentiation factor 15	11.0	Publications
46	UGT1A	UDP glucuronosyltransferase 1 family, polypeptide A complex locus	11.0	Publications
47	ALDH8A1	aldehyde dehydrogenase 8 family, member A1	11.0
48	SPTA1	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	11.0	Publications
49	SLC4A1	solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	11.0	Publications
50	TPH1	tryptophan hydroxylase 1	11.0	Publications

Pathways related to beta thalassemia according to GeneDecks:

(show all 32)

id	Pathway	Score	Top Affiliating Genes
1	O2/CO2 exchange in erythrocytes38	10.8	SLC4A1, HBB, HBA2, HBA1
2	Factors involved in megakaryocyte development and platelet production38	10.7	HBD, HBE1, HBG1, HBG2, GATA1
3	Pathway_PA16598033734	10.6	SOD1, CAT, GSR
4	Oxidative Stress Pathway (Erythrocyte)34	10.6	SOD1, CAT, GSR
5	Oxidative Stress Pathway (Erythrocyte)34	10.5	SOD1, CAT, GSR
6	Etoposide Pathway, Pharmacokinetics/Pharmacodynamics34	10.3	CYP3A4, GSTT1, UGT1A1, VDR
7	Development_Hedgehog and PTH signaling pathways in bone and cartilage development41	10.3	COL1A1, SPP1, TNFSF11, BGLAP, VDR
8	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	10.3	COL1A1, SPP1, TNFSF11, BGLAP, VDR
9	PTEN Pathway36	10.2	PSMC1, ACTG1, COL1A1, PPBP, GNRH1, ITGA4
10	Theophylline Pathway, Pharmacokinetics34	10.2	CYP2E1, CYP3A4, CYP1A2
11	Acetaminophen metabolism10	10.2	CYP2E1, CYP3A4, CYP1A2, UGT1A1
12	Acetaminophen metabolism41	10.1	UGT1A1, CYP1A2, CYP3A4, CYP2E1
13	Extrinsic Prothrombin Activation Pathway36	10.1	F10, F2, F5, SERPINC1
14	Phenytoin Pathway, Pharmacokinetics34	10.0	CYP2E1, CYP3A4, CYP1A2, UGT1A1
15	2-Naphthylamine and 2-Nitronaphtalene metabolism10	10.0	UGT1A1, CYP1A2, CYP3A4, CYP2E1
16	Axon guidance38	10.0	HFE2, ACTG1, SPTB, SPTA1, SPTBN1, CAP1
17	2-Naphthylamine and 2-Nitronaphtalene metabolism41	9.9	CYP2E1, CYP3A4, CYP1A2, UGT1A1
18	Actin-Based Motility by Rho Family GTPases36	9.9	ACTG1, PPBP, IGF1, GSN, ITGA4
19	Naphthalene metabolism41	9.9	CYP2E1, CYP3A4, CYP1A2, GSTT1, GSTM1
20	Naphthalene metabolism10	9.9	CYP2E1, CYP3A4, CYP1A2, GSTT1, GSTM1
21	Metabolism of xenobiotics by cytochrome P45020	9.8	CYP2E1, CYP3A4, CYP1A2, GSTT1, GSTM1, UGT1A1
22	Caffeine Pathway, Pharmacokinetics34	9.8	CYP1A2, CYP3A4, CYP2E1
23	Erlotinib Pathway, Pharmacokinetics34	9.8	UGT1A1, CYP1A2, CYP3A4
24	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	9.8	VDR, COL1A1, SPP1, CYP3A4, TNFSF11, TNFRSF11B
25	Transcription Role of VDR in regulation of genes involved in osteoporosis10	9.8	COL1A1, SPP1, CYP3A4, TNFSF11, TNFRSF11B, CALCR
26	Hematopoietic cell lineage20	9.8	EPO, TFRC, HLA-DRB1, IL3, ITGA4, CD4
27	Drug metabolism - cytochrome P45020	9.8	CYP2E1, CYP3A4, CYP1A2, GSTT1, GSTM1, UGT1A1
28	Antigen processing and presentation20	9.8	HLA-DRB1, HLA-DQB1, HLA-C, CD4, KIR3DL1
29	Autoimmune thyroid disease20	9.4	HLA-DRB1, HLA-DQB1, HLA-C, IFNA2, IFNA1, CGA
30	JAK-STAT Pathway36	9.1	EPO, PSMC1, PPBP, SP1, GNRH1, F2
31	Selected targets of GCR-alpha10	9.0	SLC29A1, CYP3A4, TNFSF11, INS, CGA, LEP
32	p70S6K Signaling36	8.8	HBG1, PPBP, GNRH1, F2, IGF1, IL3

Compounds related to beta thalassemia according to GeneDecks:

(show top 50)    (show all 529)

id	Compound	Score	Top Affiliating Genes
1	cyclophosphamide32 34 9 9	13.5	ITGA4, NPPB
2	citrate32	10.2	NAGLU, VDR, IREB2, F10, CAT, HP
3	sodium nitroprusside32	10.0	CGA, IREB2, CAT, TPH1, ACO1, G6PD
4	n acetylcysteine32	9.6	SERPINC1, NAGLU, IL3, ANXA5, GPT, F2
5	dmso32	9.6	UGT1A, CGA, INTS5, ALPP, GNRH1, TPH1
6	estradiol32 9 18 9	12.5	UGT1A, UGT1A1, CGA, ITGB1, CALCR, ESR1
7	25-hydroxyvitamin d32	9.5	VDR, BGLAP, LEP, ALPP, TNFRSF11B, TNFSF11
8	nitric oxide32 9 18 9	12.4	NAGLU, LCN2, ITGA4, ITGB1, ENTPD1, F5
9	valproic acid32 34 9 18 9	13.4	UGT1A, UGT1A1, GSR, ALB, CYP1A2, CYP3A4
10	vitamin-e32	9.3	NAGLU, B2M, GSR, GSTT1, GPT, IFNA2
11	malondialdehyde32	9.2	NAGLU, GSR, GSTM1, GSTT1, GPT, F5
12	hydroxyurea32 9 9	11.2	UGT1A1, ITGA4, IL3, IFNA1, IFNA2, F2
13	butyrate32	9.1	VDR, LEP, B2M, ITGA4, GSN, IL3
14	superoxide32 18	10.1	NAGLU, LCN2, GSN, GSR, ANXA5, IFNA2
15	acetaminophen32 34 9 18 9	13.1	UGT1A, UGT1A1, B2M, ANXA5, GPT, F5
16	ascorbic acid32 18	9.8	VDR, BGLAP, CGA, GSTM1, GSTT1, IL3
17	oxygen32 18	9.8	NAGLU, ITGB1, IREB2, INTS5, GSR, GSTM1
18	heparin32 9 18 9	11.7	BGLAP, CGA, CD4, ITGA4, ITGB1, GSN
19	calcitriol32 42 9 18 9	12.7	VDR, BGLAP, B2M, ITGB1, IL3, IGFBP3
20	vitamin b1232	8.7	MTHFR, B2M, IGFBP3, IGF1, F5, ALB
21	sevoflurane32 9 9	10.7	NAGLU, B2M, GPT, ALB, ALPP, HMBS
22	betacarotene32	8.6	LEP, MTHFR, GSR, GSTM1, ANXA5, IFNA2
23	doxorubicin32 34 9 9	11.5	B2M, CGA, GSR, GSTT1, ANXA5, IGFBP3
24	raloxifene32 9 9	10.3	SERPINC1, VDR, BGLAP, UGT1A1, IGFBP3, IGF1
25	prednisolone32 9 9	10.3	BGLAP, LCN2, GSTM1, GPT, IGFBP3, IFNA1
26	thymidine32 18	9.1	NAGLU, VDR, UGT1A1, MTHFR, B2M, ITGB1
27	vitamin a32 9 18 9	11.0	NAGLU, VDR, LEP, LCN2, B2M, CGA
28	vegf32	8.0	SERPINC1, BGLAP, CGA, ITGB1, IGFBP3, IGF1
29	glutamate32	7.9	VDR, LEP, MTHFR, CD4, INS, GSN
30	steroid32	7.8	NAGLU, LEP, UGT1A, UGT1A1, B2M, CGA
31	cysteine32	7.7	NAGLU, VDR, BGLAP, MTHFR, CD4, ITGB1
32	alpha tocopherol32	7.6	BGLAP, LEP, MTHFR, GSR, GSTM1, IGFBP3
33	epinephrine32 9 18 9	10.5	LEP, UGT1A, CGA, INS, GSR, IGFBP3
34	fibrinogen32	7.5	SERPINC1, LEP, CHIT1, LCN2, CD151, ITGB1
35	cycloheximide32	7.5	VDR, LEP, UGT1A, B2M, CGA, CD4
36	methotrexate32 34 42 9 9	11.3	NAGLU, LEP, MTHFR, CGA, GSR, GSTM1
37	testosterone32 9 18 9	10.3	SERPINC1, VDR, BGLAP, UGT1A, UGT1A1, MTHFR
38	creatinine32	7.0	SERPINC1, NAGLU, VDR, LEP, LCN2, MTHFR
39	vitamin d32	7.0	NAGLU, VDR, BGLAP, MTHFR, B2M, CGA
40	uric acid32 18	7.9	NAGLU, LEP, MTHFR, B2M, INS, GSR
41	cyclosporin a32 42	7.9	NAGLU, VDR, BGLAP, LEP, MTHFR, B2M
42	cholesterol32 9 18 9	9.8	NAGLU, LEP, UGT1A1, MTHFR, B2M, CD4
43	thyroxine32 18	7.7	VDR, BGLAP, LEP, UGT1A, UGT1A1, B2M
44	arginine32	6.6	SERPINC1, VDR, BGLAP, LEP, UGT1A1, CGA
45	tamoxifen32 34 9 9	9.6	SERPINC1, VDR, BGLAP, LEP, UGT1A, UGT1A1
46	lactate32	6.3	NAGLU, B2M, CGA, INS, GSR, GSTM1
47	estrogen32	6.1	SERPINC1, VDR, BGLAP, LEP, UGT1A, UGT1A1
48	dexamethasone32 42 34 9 9	9.7	SERPINC1, VDR, BGLAP, LEP, UGT1A, UGT1A1
49	serine32	5.1	KLF1, SERPINC1, VDR, BGLAP, LEP, UGT1A
50	alanine32	5.0	SERPINC1, NAGLU, VDR, BGLAP, UGT1A1, MTHFR

Cellular components related to beta thalassemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hemoglobin complex	GO:005833	10.7	AHSP, HBG2, HBG1, HBE1, HBD, HBB
2	haptoglobin-hemoglobin complex	GO:031838	10.6	HBB, HBA2, HP
3	spectrin	GO:008091	10.3	SPTBN1, SPTA1, SPTB
4	spectrin-associated cytoskeleton	GO:014731	10.2	SPTBN1, SPTA1, SPTB
5	MHC class I protein complex	GO:042612	10.2	PROCR, HFE, HLA-C, B2M
6	integral to plasma membrane	GO:005887	9.5	TFR2, TFRC, PROCR, OPN1LW, OPN1MW2, SLC29A1
7	cytosol	GO:005829	8.3	HBA2, G6PD, ACTG1, ACO1, SPTB, HBB
8	plasma membrane	GO:005886	6.7	TFRC, HFE2, HFE, NT5E, SPTBN1, HLA-DRB1
9	extracellular space	GO:005615	5.9	GDF15, HP, TNFRSF11B, TNFSF11, SPP1, PPBP
10	extracellular region	GO:005576	5.4	SHBG, COL1A1, PLA2G7, PPBP, SPP1, TNFSF11

Biological processes related to beta thalassemia according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular iron ion homeostasis	GO:006879	10.4	HAMP, SOD1, TFRC, TFR2, TF, HFE
2	response to hydrogen peroxide	GO:042542	10.3	HP, COL1A1, HBA2, HBB, SOD1
3	plasma membrane organization	GO:007009	10.3	SPTBN1, SPTA1, SPTB
4	heterocycle metabolic process	GO:046483	10.1	CYP2E1, CYP3A4, CYP1A2, UGT1A1
5	monoterpenoid metabolic process	GO:016098	9.9	CYP2E1, CYP3A4, CYP1A2
6	drug metabolic process	GO:017144	9.7	CYP2E1, CYP3A4, CYP1A2, UGT1A1
7	platelet degranulation	GO:002576	9.6	SOD1, TF, PPBP, CAP1, ALB, F5
8	axon guidance	GO:007411	9.5	HFE2, ACTG1, COL1A1, SPTB, SPTA1, SPTBN1
9	immune response	GO:006955	9.5	TNFSF11, PPBP, HFE, PROCR, HAMP, TRIM22
10	platelet activation	GO:030168	9.3	SOD1, TF, COL1A1, PPBP, CAP1, ALB
11	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	9.1	GATA1, IGF1, IL3, INS, ITGB1, CD4
12	blood coagulation	GO:007596	8.7	SERPINC1, ACTG1, HBB, HBD, HBE1, HBG1
13	positive regulation of MAPK cascade	GO:043410	8.5	LEP, ITGB1, INS, IGFBP3, IGF1
14	small molecule metabolic process	GO:044281	7.6	CYP1A2, CYP3A4, CYP2E1, NT5E, G6PD, HBA2

Molecular functions related to beta thalassemia according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	oxygen transporter activity	GO:005344	10.7	HBG2, HBG1, HBE1, HBD, HBB, HBA2
2	hemoglobin binding	GO:030492	10.3	AHSP, HBB, HP
3	iron ion binding	GO:005506	9.9	HBG2, HBG1, HBE1, HBD, HBB, HBA2
4	heme binding	GO:020037	9.9	HBG2, HBG1, HBE1, HBD, HBB, HBA2
5	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavopr	GO:016712	9.8	CYP1A2, CYP3A4, CYP2E1
6	oxygen binding	GO:019825	9.8	ALB, HBG2, HBG1, HBE1, HBD, HBB
7	protein homodimerization activity	GO:042803	9.6	EIF2AK1, G6PD, SOD1, PON1, SLC4A1, SHBG
8	enzyme binding	GO:019899	8.7	CYP2E1, CYP3A4, CYP1A2, ESR1, CAT, ANK2
9	hormone activity	GO:005179	8.3	EPO, HAMP, NPPB, GNRH1, IGF1, INS
10	protein binding	GO:005515	5.2	HBA2, ACTG1, ACO1, COL1A1, SPTB, SPTA1