Alpha Thalassemia malady

NIH Rare Diseases: Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected individuals have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. The inheritance is complex, and can be read about here. No treatment is effective for Hb Bart syndrome; for HbH disease, occasional red blood cell transfusions may be needed.³⁰

MalaCards: Alpha Thalassemia, also known as alpha-thalassemia, is related to alpha-thalassemia x-linked intellectual disability syndrome and alpha-thalassemia/mental retardation syndrome. An important gene associated with Alpha Thalassemia is ATRX (alpha thalassemia/mental retardation syndrome X-linked), and among its related pathways are O2/CO2 exchange in erythrocytes and African trypanosomiasis. The compounds 2-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID and SEBACIC ACID have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and t cells, and related mouse phenotypes are hematopoietic system and embryogenesis.

Disease Ontology: Alpha thalassemia is a thalassemia involving the genes hba1and hba2 hemoglobin genes.⁶

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

Wikipedia: Alpha-thalassemia (α-thalassemia) is a form of thalassemia involving the genes HBA1 and HBA2....⁴⁴ more...

OMIM: 604131

GeneReviews summary for a-thal

Aliases & Descriptions:

alpha thalassemia 6 30 17 8 alpha-thalassemia 15 30 16 32 43 hemoglobin h disease 6 7 33 thalassemias, alpha- 33 alpha+^ thalassemia 43

thalassemia, alpha- 33 alpha thalassaemia 6 a-thalassemia 30 thalassemia 43

Disease types for beta thalassemia family:

alpha thalassemia	thalassemia

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

(show top 50)    (show all 189)

id	Related Disease	Score	Top Affiliating Genes
1	alpha-thalassemia x-linked intellectual disability syndrome	35.4	ATRX, HELLS
2	alpha-thalassemia/mental retardation syndrome	33.4	ATRX, ARHGAP26, CREBBP, WT1, HBA2, HBHR
3	beta thalassemia	31.4	HBA2, HBB, HFE, TF
4	hemochromatosis	30.9	HP, HFE, TF
5	hemoglobin s beta-thalassemia	30.9	G6PD, HBB, HBG1, HBG2
6	mental retardation syndrome	30.8	ATRX, MECP2, DAXX, CREBBP, RPS6KA3, WT1
7	hereditary persistence of fetal hemoglobin	30.6	HBB, HBG1, HBG2
8	hypochromic anemia	30.2	HBA1, HBB, TF
9	myelodysplastic syndrome	30.2	ATRX, CREBBP, WT1, HFE, TF, EPO
10	sickle cell anemia	29.5	VCAM1, UGT1A1, G6PD, HBA1, HBA2, HBB
11	hemoglobin constant spring	29.5	HBA2, HBB
12	hepatitis c	29.3	HP, HELLS, HFE, TF
13	neonatal anemia	28.7	HBA2, EPO
14	cholelithiasis	28.5	UGT1A1, HP, G6PD, HBA2, HBB, HFE
15	iron overload	27.5	BLMH, BCS1L, UGT1A1, HBA2, HBB, HFE
16	thalassemia	27.3	LRBA, VCAM1, BLMH, BCS1L, UGT1A1, LCRB
17	hypogonadism	27.3	ATRX, WT1, HFE, TF, EPO
18	anemia	27.0	VCAM1, BLMH, BCS1L, UGT1A1, APOH, HP
19	hemoglobinopathy	27.0	HP, G6PD, HBA2, HBB, HBG1, HFE
20	congenital dyserythropoietic anemia	26.6	UGT1A1, HP, HBB, HBG2, HFE, GDF15
21	jaundice	26.5	UGT1A1, HP, G6PD, HBB, TF
22	sickle cell disease	26.5	VCAM1, UGT1A1, HP, G6PD, HBA1, HBA2
23	erythrocytosis	26.4	HBA2, HBB, EPO
24	hydrops fetalis	25.9	BLMH, BCS1L, G6PD, HBA1, HBA2, HBB
25	iron deficiency anemia	25.9	G6PD, HBG2, HFE, TF, EPO
26	fanconi's anemia	25.7	DAXX, SMARCA4, WT1, G6PD, HELLS, EPO
27	hematopoiesis	25.5	SMARCA4, CREBBP, WT1, G6PD, HBA2, HBB
28	hepatitis	25.3	VCAM1, UGT1A1, APOH, HP, DAXX, SMARCA4
29	nephrotic syndrome	25.2	APOH, HP, WT1, G6PD, TF, EPO
30	thrombosis	25.0	VCAM1, APOH, G6PD, HBB, HBG2, EPO
31	cerebritis	24.5	VCAM1, MECP2, APOH, HP, G6PD, HBA1
32	nephropathy	23.9	VCAM1, APOH, HP, WT1, HBA1, HFE
33	malaria	23.7	LRBA, VCAM1, BCS1L, ATRX, APOH, HP
34	hypertension	23.4	VCAM1, APOH, HP, G6PD, HBA1, HBB
35	thyroiditis	22.7	VCAM1, UGT1A1, APOH, HP, CREBBP, WT1
36	heinz body anemia	13.7	HBA1, HBA2, HBB
37	ivemark syndrome	13.7	HBA1, HBA2, HBB
38	fetal hemoglobin quantitative trait locus 1	13.6	HBG1, HBG2
39	hereditary spherocytosis	13.5	UGT1A1, G6PD, HFE
40	hpfh	13.5	HBB, HBG1, HBG2
41	hemoglobinemia	13.5	HP, HBB
42	mental retardation smith fineman myers type	13.5	ATRX, SMARCA1
43	favism	13.5	HP, G6PD, HBA1
44	blackwater fever	13.4	HP, G6PD
45	myoblastoma	13.4	SOX8, NPRL3
46	monogenic disease	13.4	MECP2, HBA1, HBA2, HBB
47	myelomonocytic leukemia	13.3	ARHGAP26, CREBBP, WT1, HBG1
48	plasmodium falciparum malaria	13.3	HP, G6PD, HBB
49	bantu siderosis	13.3	HFE, TF
50	glucosephosphate dehydrogenase deficiency	13.2	UGT1A1, HP, G6PD, HBG2

Clinical features from OMIM: 604131

Approved drugs:

Drug clinical trials:

Genetic tests related to alpha thalassemia:

id	Genetic test	Affiliating Genes
1	Alpha Thalassemia clinical/research	HBA1, HBA2, HBZ

MalaCards organs/tissues related to alpha thalassemia:

²²

MGI Mouse Phenotypes related to alpha thalassemia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.3	EPO, NPRL3, HELLS, HBZ, RPS6KA3
2	embryogenesis phenotype	MP:0005380	8.5	NPRL3, NSD1, DNMT3L, HELLS, G6PD, CREBBP
3	integument phenotype	MP:0010771	8.1	NPRL3, HELLS, HBB, HBA2, RPS6KA3, CREBBP
4	normal phenotype	MP:0002873	8.0	HFE, DNMT3L, EPO, GDF15, HBG1, HBB
5	reproductive system phenotype	MP:0005389	7.8	HBB, HBZ, DNMT3L, SOX8, HBA1, WT1
6	growth/size phenotype	MP:0005378	7.2	HBB, HBZ, HELLS, HFE, SOX8, NPRL3
7	cardiovascular system phenotype	MP:0005385	7.1	WT1, G6PD, HBB, DNMT3L, NPRL3, EPO
8	cellular phenotype	MP:0005384	6.9	CREBBP, WT1, G6PD, HBA2, HELLS, SMARCA4
9	homeostasis/metabolism phenotype	MP:0005376	5.4	G6PD, HBA2, HBB, HELLS, HFE, TF
10	mortality/aging	MP:0010768	5.0	VCAM1, HBA2, HBB, HBZ, HELLS, HFE

Articles related to alpha thalassemia:

(show top 50)    (show all 113)

id	Title	Authors	Year	Affiliating Genes
1	Frequency of positive XmnIGgamma polymorphism and coi nheritance of common alpha thalassemia mutations do not show statistically sign ificant difference between thalassemia major and intermedia cases with homozygo us IVSII-1 mutation. (19892574)	Neishabury M.... Najmabadi H.	2010	HBG2
2	Molecular characterization of alpha-Thalassemia in Ad ana, Turkey: A single center study. (20332613)	Guvenc B.... Erkman H.	2010	HBA2
3	Decreased expression of GRAF1/OPHN-1-L in the X-linke d alpha thalassemia mental retardation syndrome. (20602808)	Barresi V.... Condorelli D.F.	2010	ARHGAP26
4	Molecular characterization of alpha-thalassemia in the Dohuk region of Iraq. (19205971)	Al-Allawi N.A.... Najmabadi H.	2009	HBA2
5	Diagnostic value of zinc protoporphyrin in a screening strategy for alpha-thalassemia. (19187279)	SardA^n EstAcvez N.... Gorgels J.P.	2009	HBA2
6	G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia. (18772456)	Bernaudin F.... Delacourt C.	2008	G6PD, HBA1, HBB
7	alpha(+)-Thalassemia Protects against Anemia Associated with Asymptomatic Malaria: Evidence from Community-Based Surveys in Tanzania and Kenya. (18582194)	Veenemans J.... Verhoef H.	2008	HBA1
8	Reduced risk of uncomplicated malaria episodes in children with alpha+-thalassemia in northeastern Tanzania. (18458302)	Enevold A.... Vestergaard L.S.	2008	G6PD, HBA1, HBB
9	Acquired alpha-thalassemia as early sign for myelodysplastic syndrome (refractory anaemia) with secondary haemochromatosis (17627922)	Perrin J.... Lecompte T.	2007	ATRX
10	Haptoglobin levels are associated with haptoglobin genotype and alpha+ -Thalassemia in a malaria-endemic area. (16760505)	Imrie H.... Day K.P.	2006	HP, HBA1
11	Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India. (17132905)	Sankar V.H.... Agarwal S.	2006	HBA1
12	UGT1A1 polymorphism outweighs the modest effect of deletional (-3.7 kb) alpha-thalassemia on cholelithogenesis in sickle cell anemia. (16628735)	Chaar V.... Romana M.	2006	UGT1A1
13	De novo and acquired forms of alpha thalassemia. (16537041)	Forget B.G.	2006	ATRX
14	Oligonucleotide array for detection of common severe determinants of alpha thalassemia. (15607220)	Ye B.C.... Lei Z.	2005	HBA2
15	A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)]. (15658192)	Dutly F.... Frischknecht H.	2004	HBA2
16	A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases. (15008259)	Harteveld C.L.... Giordano P.C.	2004	HBA1
17	Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)Glu-->Asp (alpha1)] and alpha-thalassemia in Thailand. (15182057)	Ngiwsara L.... Svasti J.	2004	HBA1
18	Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. (14592816)	Steensma D.P.... Gibbons R.J.	2004	ATRX
19	An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene. (15481895)	Harteveld C.L.... Giordano P.C.	2004	HBA2
20	A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a 'synergistic' manner to balance the phenotype of classic thalassemic syndromes. (15003825)	Kanavakis E.... Papassotiriou I.	2004	EPO
21	Identification of alpha-thalassemia mutations in Iranian individuals with abnormal hematological indices and normal Hb A2. (12779276)	Gohari L.H.... Kleanthous M.	2003	HBA2
22	Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia. (12144064)	Sawangareetrakul P.... Fucharoen S.	2002	HBB
23	Hb G-San Jose variant levels correlate with alpha-thalassemia genotypes. (11939513)	Lacerra G.... Caresti C.	2002	HBB
24	PCR-based analysis of alpha-thalassemia in Southern Taiwan. (11999355)	Chen T.P.... Lin S.F.	2002	HBB
25	Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype. (12403490)	Harteveld C.L.... Giordano P.C.	2002	HBA1
26	Rapid differentiation of five common alpha-thalassemia genotypes by polymerase chain reaction. (11283524)	Tang D.C.... Rodgers G.P.	2001	HBA2
27	Atypical hemoglobin H disease in a Thai patient resulting from a combination of alpha-thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity. (11422410)	Fucharoen S.... Fucharoen G.	2001	HBB
28	Oligomerization and ligand binding in a homotetrameric hemoglobin: two high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a marker for alpha-thalassemia. (11514664)	Kidd R.D.... Baker E.N.	2001	HBG2, HBG1
29	A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia. (11570724)	Noguera N.I.... Villegas A.	2001	HBA2
30	Hb Douala [alpha3(A1)Ser --> Phe]: a new alpha1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia. (11570726)	Prehu C.... Wajcman H.	2001	HBA1
31	Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel. (11074535)	Oron-Karni V.... Rund D.	2000	HBA2
32	Influence of alpha-thalassemia trait on the prevalence and severity of anemia in pregnancy among women in Kuwait. (11154980)	Diejomaoh F.M.... Adekile A.D.	2000	HBA2
33	Interaction of an alpha(+)-thalassemia deletion with either a highly unstable alpha-globin variant (alpha2, codon 59, GGC-->GAC) or a nondeletional alpha-thalassemia mutation (AATAAA-->AATAAG): comparison of phenotypes illustrating 'dominant' alpha-thalassemia. (10569721)	Traeger-Synodinos J.... Kanavakis E.	1999	HBA2
34	Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an 'in-frame' deletion causing alpha-thalassemia. (10569720)	Traeger-Synodinos J.... Bernini L.F.	1999	HBA1, HBA2
35	alpha-thalassemia accompanied with Gilbert's syndrome (9796407)	Koiso H.... Sato H.	1998	UGT1A1
36	Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. (8644709)	Villard L.... Fontes M.	1996	ATRX
37	Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population. (8756078)	Ayala S.... Vives-Corrons J.L.	1996	HBA2
38	Mutations in a putative global transcriptional regulator cause X- linked mental retardation with alpha-thalassemia (ATR-X syndrome). (7697714)	Gibbons R.J.... Higgs D.R.	1995	ATRX
39	Anti-zeta antibody screening for alpha-thalassemia us ing dried filter paper blood. (8192921)	Harada F.... Chui D.H.	1994	HBA2
40	A novel deletion of the entire alpha globin locus causing alpha-thalassemia-1 in a northern European family. (7942631)	Sabath D.E.... Tait J.F.	1994	HBA2
41	Alpha-thalassemia (7856931)	Peltier J.Y.... Girot R.	1994	HBA2
42	Evaluation of gene deletions by quantitative polymera se chain reaction. Experience with the alpha-thalassemia model. (7866634)	Borriello F.... Mutter G.L.	1994	HBA2
43	Alpha-Thalassemia (20301608)	Galanello R.... Cao A.	1993	HBA1, HBB, HBA2
44	Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia. (8431522)	Kulozik A.E.... Kleihauer E.	1993	HBB
45	Screening for alpha-thalassemia. Correlation of hemog lobin H inclusion bodies with DNA-determined genotype. (1329692)	Skogerboe K.J.... Tait J.F.	1992	HBZ
46	X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. (1415255)	Gibbons R.J.... Higgs D.R.	1992	ATRX
47	Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes. (1715793)	Romao L.... Liebhaber S.A.	1991	HBA2
48	Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. (2339704)	Wilkie A.O.... Bethlenfalvay N.C.	1990	HBA2
49	Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG). (3597771)	Liebhaber S.A.... Steinberg M.H.	1987	HBA2
50	Initiation codon mutation as a cause of alpha thalassemia. (6490612)	Pirastu M.... Kan Y.W.	1984	HBA2

Genes related to alpha thalassemia according to GeneCards:

(show all 38)

id	Symbol	Description	Score	GeneCards Section Context
1	ATRX	alpha thalassemia/mental retardation syndrome X-linked	11.1	Summaries, Orthologs, Aliases & Descriptions, Transcripts (show all 5 sections) Publications
2	HBA2	hemoglobin, alpha 2	11.1	Publications, Summaries
3	HBA1	hemoglobin, alpha 1	11.1	Summaries, Publications
4	HBHR	alpha-thalassemia/mental retardation syndrome, type 1	11.1	Aliases & Descriptions
5	HBZ	hemoglobin, zeta	11.0	Publications
6	HELLS	helicase, lymphoid-specific	11.0	Publications
7	HBB	hemoglobin, beta	11.0	Publications
8	HBG1	hemoglobin, gamma A	11.0	Publications
9	UGT1A1	UDP glucuronosyltransferase 1 family, polypeptide A1	11.0	Publications
10	DAXX	death-domain associated protein	11.0
11	WT1	Wilms tumor 1	11.0	Publications
12	G6PD	glucose-6-phosphate dehydrogenase	11.0	Publications
13	CREBBP	CREB binding protein	11.0	Publications
14	ARHGAP26	Rho GTPase activating protein 26	11.0	Publications
15	HFE	hemochromatosis	11.0
16	HBQ1	hemoglobin, theta 1	11.0
17	KRT40	keratin 40	11.0	Disorders
18	MED20	mediator complex subunit 20	11.0	Disorders
19	SOX8	SRY (sex determining region Y)-box 8	11.0
20	BCS1L	BCS1-like (S. cerevisiae)	11.0
21	GDF15	growth differentiation factor 15	11.0	Publications
22	DNMT3L	DNA (cytosine-5-)-methyltransferase 3-like	11.0
23	SMARCA1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	11.0
24	BLMH	bleomycin hydrolase	11.0
25	RPS6KA3	ribosomal protein S6 kinase, 90kDa, polypeptide 3	11.0	Publications
26	NPRL3	nitrogen permease regulator-like 3 (S. cerevisiae)	11.0
27	HBG2	hemoglobin, gamma G	11.0	Publications
28	MECP2	methyl CpG binding protein 2 (Rett syndrome)	11.0	Publications
29	HP	haptoglobin	11.0	Publications
30	NSD1	nuclear receptor binding SET domain protein 1	11.0	Publications
31	SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	11.0
32	VCAM1	vascular cell adhesion molecule 1	11.0	Publications
33	TF	transferrin	11.0	Publications
34	APOH	apolipoprotein H (beta-2-glycoprotein I)	11.0
35	SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	11.0
36	EPO	erythropoietin	11.0	Publications
37	LRBA	LPS-responsive vesicle trafficking, beach and anchor containing	11.0
38	LCRB	locus control region, beta	10.4	Publications

Pathways related to alpha thalassemia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	O2/CO2 exchange in erythrocytes38	10.3	HBA1, HBA2, HBB
2	African trypanosomiasis20	9.9	HBB, HBA2, HBA1, VCAM1
3	Malaria20	9.8	HBB, HBA2, HBA1, VCAM1
4	Chromatin Remodeling36	9.5	SMARCA1, SMARCA2, SMARCA4, HELLS
5	Development_Ligand-dependent activation of the ESR1/AP-1 pathway41	9.4	CREBBP, SMARCA4, SMARCA2
6	BRCA1 Pathway36	9.3	SMARCA1, SMARCA2, SMARCA4, HELLS
7	Development Ligand-dependent activation of the ESR1/AP-1 pathway10	9.2	CREBBP, SMARCA4, SMARCA2
8	Glucocorticoid Receptor Signaling36	9.1	SMARCA1, SMARCA2, SMARCA4, CREBBP, HELLS
9	Chromatin Regulation / Acetylation3	9.0	HELLS, CREBBP, SMARCA4, SMARCA2, SMARCA1, MECP2

Compounds related to alpha thalassemia according to GeneDecks:

(show top 50)    (show all 75)

id	Compound	Score	Top Affiliating Genes
1	2-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID9 9	11.4	HBA1, HBB
2	SEBACIC ACID9 9	11.4	HBA1, HBB
3	2-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID9 9	11.4	HBA1, HBB
4	2-[(2-methoxy-5-methylphenoxy)methyl]pyridine9 9	11.4	HBA1, HBB
5	4-[(5-methoxy-2-methylphenoxy)methyl]pyridine9 9	11.3	HBB, HBA1
6	cyclophosphamide32 34 9 9	13.3	APOH
7	5-aminolevulinic acid32 18	11.3	HFE, HBG1, HBB, CREBBP
8	2,6-DICARBOXYNAPHTHALENE9 9	11.2	HBB, HBA1
9	8-aminoquinoline32	10.1	HBG2, G6PD
10	glucose 6-phosphate32 18	10.9	UGT1A1, HP, G6PD, HBB, HBG2
11	histidine32	9.8	HBG2, HBB, WT1, CREBBP, SMARCA4, UGT1A1
12	tocopherol32	9.7	TF, HBG2, G6PD, HP
13	iron dextran32 9 9	11.6	EPO, TF, HBB, HBA1
14	succinylacetone32	9.6	EPO, TF, HBB
15	benzidine32	9.6	EPO, HBG1, HBB, HP, UGT1A1
16	methionine32	9.6	HELLS, HBB, HBA2, CREBBP, HP, MECP2
17	cysteine32	9.5	HELLS, HBG2, HBB, CREBBP, SMARCA4, BLMH
18	polyacrylamide32	9.5	HELLS, HBG1, HBB, CREBBP, HP, APOH
19	uric acid32 18	10.5	HFE, HBG2, G6PD, HP, APOH
20	butyrate32	9.5	EPO, HBG1, HBB, HBA2, WT1, CREBBP
21	fenton32	9.4	EPO, TF, HBG2
22	Heme9 18 9	11.4	TF, HFE, HBZ, HBQ1, HBG2, HBG1
23	zinc protoporphyrin32	9.4	EPO, TF, G6PD, HP
24	tamoxifen32 34 9 9	12.4	TF, HBB, G6PD, CREBBP, UGT1A1, VCAM1
25	23-diphosphoglycerate32	9.4	HP, G6PD, HBA2, HBB, HBG2, EPO
26	recormon32	9.3	EPO, TF
27	oxygen32 18	10.3	HBG2, HBG1, HBB, HBA2, HBA1, G6PD
28	8-isoprostane32	9.3	TF, HP, APOH, VCAM1
29	ribavirin32 34 9 9	12.3	EPO, TF, HELLS, G6PD, HP
30	deferoxamine32 9 9	11.2	EPO, TF, HBG2, HP
31	alpha tocopherol32	9.2	TF, HBG2, G6PD, APOH, VCAM1
32	oligonucleotide32	9.2	GDF15, HFE, HELLS, HBZ, HBB, HBA2
33	lysine32	9.2	HELLS, HBB, WT1, RPS6KA3, CREBBP, SMARCA4
34	ferric gluconate32	9.1	EPO, TF
35	azathioprine32 34 9 9	12.1	EPO, HBG1, HBB, G6PD, APOH, MECP2
36	malondialdehyde32	9.1	EPO, HBG2, G6PD, HP, APOH
37	hydroxyurea32 9 9	11.1	EPO, HELLS, HBG2, HBG1, HBB, HBA2
38	vitamin b1232	8.9	EPO, TF, G6PD, HP, APOH
39	ascorbic acid32 18	9.9	EPO, TF, HFE, HBG2, G6PD, HP
40	atp32	8.7	HELLS, HBB, HBA2, G6PD, RPS6KA3, CREBBP
41	zinc32 18	9.7	DNMT3L, HFE, HELLS, HBG1, HBB, WT1
42	aspartate32	8.6	EPO, TF, HFE, HBB, G6PD, HP
43	arginine32	8.5	HELLS, HBG2, HBB, WT1, CREBBP, SMARCA4
44	creatinine32	8.3	EPO, TF, HBG2, G6PD, WT1, CREBBP
45	folate32	8.3	EPO, TF, G6PD, HP, APOH, MECP2
46	alanine32	8.2	TF, HFE, HELLS, HBG2, HBB, HBA2
47	testosterone32 9 18 9	11.2	EPO, HFE, G6PD, WT1, CREBBP, SMARCA4
48	lactate32	8.0	EPO, TF, HBG2, HBB, G6PD, HP
49	iron32 18	8.8	HBG2, HFE, TF, EPO, GDF15, HBG1
50	estrogen32	7.5	G6PD, HBB, HFE, TF, GDF15, WT1

Cellular components related to alpha thalassemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	haptoglobin-hemoglobin complex	GO:031838	9.9	HP, HBA2, HBB
2	hemoglobin complex	GO:005833	9.6	HBA2, HBZ, HBQ1, HBG2, HBG1, HBB
3	heterochromatin	GO:000792	9.6	SMARCA4, DAXX, MECP2
4	WINAC complex	GO:071778	9.6	SMARCA2, SMARCA4
5	nuclear chromatin	GO:000790	8.9	MECP2, SMARCA2, SMARCA4, CREBBP

Biological processes related to alpha thalassemia according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	oxygen transport	GO:015671	10.3	HBQ1, HBB, HBA2
2	positive regulation of cell death	GO:010942	10.0	HP, HBA2, HBB
3	methylation-dependent chromatin silencing	GO:006346	10.0	SMARCA4, HELLS
4	erythrocyte maturation	GO:043249	9.7	G6PD, HBZ, EPO
5	response to hydrogen peroxide	GO:042542	9.6	HBB, HBA2, HP
6	aortic smooth muscle cell differentiation	GO:035887	9.5	SMARCA2, SMARCA4
7	negative regulation of transcription, DNA-dependent	GO:045892	8.8	SOX8, DNMT3L, WT1, SMARCA4, SMARCA2, DAXX
8	negative regulation of transcription from RNA polymerase II promoter	GO:000122	8.6	NSD1, HBZ, WT1, CREBBP, SMARCA4, SMARCA2
9	positive regulation of transcription, DNA-dependent	GO:045893	7.9	MECP2, EPO, SOX8, NSD1, WT1, CREBBP

Molecular functions related to alpha thalassemia according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	haptoglobin binding	GO:031720	10.3	HBB, HBA2
2	hemoglobin binding	GO:030492	10.1	HP, HBB
3	oxygen transporter activity	GO:005344	9.8	HBA2, HBB, HBG1, HBG2, HBQ1, HBZ
4	oxygen binding	GO:019825	9.8	HBZ, HBQ1, HBG2, HBG1, HBB, HBA2
5	heme binding	GO:020037	9.7	HBZ, HBQ1, HBG2, HBG1, HBB, HBA2
6	iron ion binding	GO:005506	9.7	HBZ, HBQ1, HBG2, HBG1, HBB, HBA2
7	DNA-dependent ATPase activity	GO:008094	9.4	SMARCA1, SMARCA2, SMARCA4
8	androgen receptor binding	GO:050681	9.4	DAXX, SMARCA4, NSD1
9	helicase activity	GO:004386	9.3	HELLS, SMARCA4, SMARCA2, SMARCA1, ATRX
10	protein binding	GO:005515	5.6	CREBBP, WT1, HBA2, HBB, HFE, TF