Hemoglobin E-Beta-Thalassemia Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Orphanet: ⁵⁸ Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).

MalaCards based summary: Hemoglobin E-Beta-Thalassemia Syndrome, also known as hemoglobin e/beta thalassemia disease, is related to thalassemia and beta-thalassemia. An important gene associated with Hemoglobin E-Beta-Thalassemia Syndrome is HBB (Hemoglobin Subunit Beta). The drug Chrysarobin has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone marrow and monocytes, and related phenotypes are immunodeficiency and anemia

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Related Diseases for Hemoglobin E-Beta-Thalassemia Syndrome

Diseases in the Hemoglobin E-Beta-Thalassemia Syndrome family:

Hemoglobin C-Beta-Thalassemia Syndrome

Diseases related to Hemoglobin E-Beta-Thalassemia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)

#	Related Disease	Score	Top Affiliating Genes
1	thalassemia	31.1	LOC107133510 HBB
2	beta-thalassemia	30.5	LOC107133510 LOC106099062 HBB
3	hemoglobin e disease	30.3	LOC107133510 LOC106099062 HBB
4	hemoglobinopathy	29.7	LOC107133510 LOC106099062 HBB
5	alpha-thalassemia	29.4	LOC107133510 LOC106099062 HBB
6	sickle cell anemia	29.4	LOC107133510 LOC106099062 HBB
7	beta-thalassemia major	29.3	LOC107133510 LOC106099062 HBB
8	hemolytic anemia	29.3	LOC107133510 LOC106099062 HBB
9	deficiency anemia	28.8	LOC107133510 LOC106099062 HBB
10	beta-thalassemia associated with another hemoglobin anomaly	11.3
11	moyamoya disease 1	10.1
12	paraplegia	10.1
13	pythiosis	10.1
14	splenomegaly	10.1
15	autoimmune disease	10.0
16	systemic lupus erythematosus	10.0
17	pulmonary hypertension, primary, 1	10.0
18	anemia, hypochromic microcytic, with iron overload 1	10.0
19	myelofibrosis	10.0
20	polycythemia vera	10.0
21	wilson disease	10.0
22	anemia, sideroblastic, 1	10.0
23	gallbladder disease 1	10.0
24	systemic lupus erythematosus 1	10.0
25	graft-versus-host disease	10.0
26	melioidosis	10.0
27	hypochromic microcytic anemia	10.0
28	salmonellosis	10.0
29	urinary tract infection	10.0
30	osteonecrosis	10.0
31	microcytic anemia	10.0
32	splenic sequestration	10.0
33	transient cerebral ischemia	10.0
34	gastroenteritis	10.0
35	iron metabolism disease	10.0
36	glucosephosphate dehydrogenase deficiency	10.0
37	antiphospholipid syndrome	10.0
38	gingivitis	10.0
39	epidural spinal canal neoplasm	10.0
40	arthropathy	10.0
41	pancreatitis	10.0
42	cerebrovascular disease	10.0
43	osteoarthritis	10.0
44	polycythemia	10.0
45	lupus erythematosus	10.0
46	priapism	10.0
47	chronic graft versus host disease	10.0
48	cytokine deficiency	10.0
49	growth hormone deficiency	10.0
50	klebsiella infection	10.0

Graphical network of the top 20 diseases related to Hemoglobin E-Beta-Thalassemia Syndrome:

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Symptoms & Phenotypes for Hemoglobin E-Beta-Thalassemia Syndrome

Human phenotypes related to Hemoglobin E-Beta-Thalassemia Syndrome:

⁵⁸ ³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	immunodeficiency ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002721
2	anemia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001903
3	abnormal hemoglobin ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0011902
4	increased circulating ferritin concentration ³⁰	Frequent (33%)		HP:0003281
5	increased serum ferritin ⁵⁸		Frequent (79-30%)

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Drugs & Therapeutics for Hemoglobin E-Beta-Thalassemia Syndrome

Drugs for Hemoglobin E-Beta-Thalassemia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Chrysarobin		Phase 1, Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Multi-National, Blinded, Placebo-Controlled, Dose Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of HQK-1001 in Subjects With Beta Thalassemia Intermedia, Including Hemoglobin E Beta Thalassemia	Completed	NCT00790127	Phase 1, Phase 2	HQK-1001;Placebo

Search NIH Clinical Center for Hemoglobin E-Beta-Thalassemia Syndrome

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Genetic Tests for Hemoglobin E-Beta-Thalassemia Syndrome

Genetic tests related to Hemoglobin E-Beta-Thalassemia Syndrome:

#	Genetic test	Affiliating Genes
1	Hemoglobin E/beta Thalassemia Disease ²⁸

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Anatomical Context for Hemoglobin E-Beta-Thalassemia Syndrome

Organs/tissues related to Hemoglobin E-Beta-Thalassemia Syndrome:

MalaCards : Spinal Cord, Bone Marrow, Monocytes, Endothelial, Liver, Bone

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Publications for Hemoglobin E-Beta-Thalassemia Syndrome

Articles related to Hemoglobin E-Beta-Thalassemia Syndrome:

(show top 50) (show all 143)

#	Title	Authors	PMID	Year
1	The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. ⁶² ⁵	Premawardhena A...Weatherall DJ	12850492	2003
2	Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. ⁶² ⁵	Rees DC...Weatherall DJ	8839873	1996
3	Interaction of malaria with a common form of severe thalassemia in an Asian population. ⁵	O'Donnell A...Weatherall DJ	19841268	2009
4	Global epidemiology of haemoglobin disorders and derived service indicators. ⁵	Modell B...Darlison M	18568278	2008
5	Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. ⁵	Edison ES...Chandy M	16114182	2005
6	Genotypes and phenotypes--another lesson from the hemoglobinopathies. ⁵	Benz EJ	15470211	2004
7	The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. ⁵	Flatz G...Horst J	15481886	2004
8	Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. ⁵	Ohashi J...Tokunaga K	15114532	2004
9	Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. ⁵	Chotivanich K...White N	12149194	2002
10	Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. ⁵	Premawardhena A...Weatherall DJ	11425418	2001
11	Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? ⁵	Beutler E...Demina A	9653159	1998
12	Sickle cell-hemoglobin E disease: clinical findings and implications. ⁵	Rey KS...Miller ST	1960615	1991
13	Direct detection of haemoglobin E with MnlI. ⁵	Thein SL...Weatherall DJ	3031297	1987
14	Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. ⁵	Orkin SH...Giardina PJ	6280057	1982
15	Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. ⁵	Antonarakis SE...Kazazian HH	6275383	1982
16	Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. ⁵	Fairbanks VF...Fiester RF	7395858	1980
17	A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. ⁵	Weatherall DJ...Temperley IJ	4351905	1973
18	Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. ⁵	Blackwell RW...Huang JT	5658717	1968
19	Abnormal human haemoglobins. VI. The chemical difference between haemoglobins A and E. ⁵	HUNT JA...INGRAM VM	13716853	1961
20	Spectrum of hemoglobinopathies with hematological and biochemical profile: A five year experience from a tertiary care hospital. ⁶²	Mansoor N...Jabbar N	36415225	2022
21	Non-Transfusion-Dependent Thalassemia: A Panoramic Review. ⁶²	Shash H	36295656	2022
22	Red blood cell alloimmunization and other transfusion-related complications in patients with transfusion-dependent thalassemia: A multi-center study in Thailand. ⁶²	Teawtrakul N...Red Blood Cell Disorders Study Group	35986658	2022
23	Leg Ulcers: A Report in Patients with Hemoglobin E Beta Thalassemia and Review of the Literature in Severe Beta Thalassemia. ⁶²	Mehta V...Olivieri NF	34753145	2022
24	Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia. ⁶²	Hernaningsih Y...Yusoff NM	35911837	2022
25	Evaluation of Vascular Health of E-Beta Thalassemia Patients: Effect of Iron Overload. ⁶²	De D...Chakrabarti P	34781613	2021
26	Comparison of efficacy and safety of thalidomide vs hydroxyurea in patients with Hb E-β thalassemia - a pilot study from a tertiary care Centre of India. ⁶²	Jain M...De R	33610115	2021
27	Correction of Hemoglobin E/Beta-Thalassemia Patient-Derived iPSCs Using CRISPR/Cas9. ⁶²	Wattanapanitch M	33336279	2021
28	Hemoglobin Disorders Among Anemic Patients: a Cross-Sectional Study from Jeddah City, Western Saudi Arabia. ⁶²	Alzahrani M...Qadah T	33337829	2020
29	A Rare Case of Hemoglobin E/Beta-Thalassemia and Systemic Lupus Erythematosus. ⁶²	Khamees I...Yassin MA	33052293	2020
30	Efficacy of Dichlorophenolindophenol (DCIP) as Screening Test for Hb E: Revisited. ⁶²	Mandal PK...Dolai TK	32647429	2020
31	Thalidomide in Patients with Transfusion-Dependent E-Beta Thalassemia Refractory to Hydroxyurea: A Single-Center Experience. ⁶²	Nag A...Chandy M	32425398	2020
32	Prevalence of endocrine complications in transfusion dependent thalassemia in Hospital Pulau Pinang: A pilot study. ⁶²	Lee KT...Goh AS	32008017	2020
33	Phenotypic Diversity and Clinico-Hematological Profile of Hb E-Beta Thalassemic Children. ⁶²	Baruah A...Baruah MK	32158093	2020
34	Defective cytokine production from monocytes/macrophages of E-beta thalassemia patients in response to Pythium insidiosum infection. ⁶²	Ud-Naen S...Srinoulprasert Y	30765134	2019
35	Gallstone Pancreatitis and Extramedullary ArticleTitlespinal Hematopoiesis in Hb E/beta Thalassemia. ⁶²	Goldie L...Konsam V	31304716	2019
36	Moyamoya syndrome in hemoglobin E-beta thalassemia: A rare presentation and association. ⁶²	Doctor PN...Merchant RH	29943740	2018
37	Feasibility and Safety of Chorionic Villus Sampling (CVS) for Prenatal Diagnosis of Thalassemia in Bangladesh. ⁶²	Kazal RK...Aalpona FZ	30141449	2018
38	Clinico-hematological Profile of Hb E-β Thalassemia-Prospective Analysis in a tertiary Care Centre. ⁶²	Pani K...Agarwal S	31331134	2018
39	One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system. ⁶²	Wattanapanitch M...Issaragrisil S	29482624	2018
40	Spinal cord compression due to extramedullary hematopoiesis in a patient with E-beta-thalassemia managed without radiation or surgery. ⁶²	La VT...Pakbaz Z	30181838	2018
41	Hydroxyurea for hemoglobin E/β-thalassemia: a systematic review and meta-analysis. ⁶²	Algiraigri AH...Kassam A	28786080	2017
42	Hypercoagulable state as demonstrated by thromboelastometry in hemoglobin E/beta-thalassemia patients: Association with clinical severity and splenectomy status. ⁶²	Natesirinilkul R...Sanguansermsri T	26971311	2016
43	Correlation of BACH1 and Hemoglobin E/Beta-Thalassemia Globin Expression. ⁶²	Lee TY...Lai MI	26377036	2016
44	Non-transfusion-dependent thalassemia and thalassemia intermedia: epidemiology, complications, and management. ⁶²	Vichinsky E	26479125	2016
45	[Current management of thalassemia intermedia]. ⁶²	Thuret I	25282488	2014
46	Intrathoracic extramedullary hematopoiesis in E-beta thalassemia. ⁶²	Mandal PK...Dolai TK	25118758	2014
47	Posterior reversible encephalopathy syndrome after transfusion in Hb E-beta thalassemia. ⁶²	Sarkar S...Kumar R	24986299	2014
48	Post-transfusion hypertension and seizure in congenital hemolytic anemia: a case report and literature review. ⁶²	Ngim CF...Lai NM	24473404	2014
49	A study of the prevalence of thalassemia and its correlation with liver function test in different age and sex group in the Chittagong district of Bangladesh. ⁶²	Palit S...Dash R	24826050	2012
50	Treatment strategies for hemoglobin E beta-thalassemia. ⁶²	Olivieri NF	22631039	2012

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Genes for Hemoglobin E-Beta-Thalassemia Syndrome

Genes related to Hemoglobin E-Beta-Thalassemia Syndrome (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HBB	Hemoglobin Subunit Beta	Protein Coding	750	Pathogenic ⁵ Causative germline mutation ⁵⁸	13716853 5658717 7395858 (more) 15470211 6280057 6275383 3031297 1960615 8839873 12149194 15114532 15481886 16114182 11425418 12850492 9653159 19841268 18568278 4351905 21886666
2	LOC106099062	HBB Recombination Region	Functional Element	400	Pathogenic ⁵	13716853 5658717 7395858 (more) 15470211 6280057 6275383 3031297 1960615 8839873 12149194 15114532 15481886 16114182 11425418 12850492 9653159 19841268 18568278 4351905
3	LOC107133510	Origin Of Replication At HBB	Functional Element	400	Pathogenic ⁵	13716853 5658717 7395858 (more) 15470211 6280057 6275383 3031297 1960615 8839873 12149194 15114532 15481886 16114182 11425418 12850492 9653159 19841268 18568278 4351905

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Variations for Hemoglobin E-Beta-Thalassemia Syndrome

ClinVar genetic disease variations for Hemoglobin E-Beta-Thalassemia Syndrome:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	SNV	Pathogenic	15161	rs33950507	GRCh37: 11:5248173-5248173 GRCh38: 11:5226943-5226943

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Expression for Hemoglobin E-Beta-Thalassemia Syndrome

Search GEO for disease gene expression data for Hemoglobin E-Beta-Thalassemia Syndrome.

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Pathways for Hemoglobin E-Beta-Thalassemia Syndrome

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GO Terms for Hemoglobin E-Beta-Thalassemia Syndrome

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Sources for Hemoglobin E-Beta-Thalassemia Syndrome

¹ BitterDB

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

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³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁶¹ PubChem

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⁶⁵ R&D Systems

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⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: HMG026 MIFTS: 28	Hemoglobin E-Beta-Thalassemia Syndrome Categories: Blood diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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