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

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Aliases & Classifications for Hemoglobin E-Beta-Thalassemia Syndrome

MalaCards integrated aliases for Hemoglobin E-Beta-Thalassemia Syndrome:

Name: Hemoglobin E-Beta-Thalassemia Syndrome ⁵⁸

Hemoglobin E/beta Thalassemia Disease ²⁹ ⁶ ⁷⁰

Hbe-Beta-Thalassemia Syndrome ⁵⁸

E-Beta-Thalassemia ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

hemoglobin e-beta-thalassemia syndrome
Inheritance: Autosomal recessive;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

Other hereditary haemolytic anaemias

Other haemoglobinopathies

Orphanet: ⁵⁸

Rare haematological diseases

External Ids:

ICD10 via Orphanet ³³ D58.2

UMLS via Orphanet ⁷¹ C0472777

Orphanet ⁵⁸ ORPHA231249

SNOMED-CT via HPO ⁶⁸ 165397008 234532001 271737000

UMLS ⁷⁰ C0472777

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Summaries for Hemoglobin E-Beta-Thalassemia Syndrome

MalaCards based summary : Hemoglobin E-Beta-Thalassemia Syndrome, also known as hemoglobin e/beta thalassemia disease, is related to beta-thalassemia and thalassemia. An important gene associated with Hemoglobin E-Beta-Thalassemia Syndrome is HBB (Hemoglobin Subunit Beta). 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	beta-thalassemia	30.5	LOC107133510 LOC106099062 HBB
2	thalassemia	30.5	LOC107133510 LOC106099062 HBB
3	hemoglobin e disease	30.3	LOC107133510 LOC106099062 HBB
4	hemoglobinopathy	29.6	LOC107133510 LOC106099062 HBB
5	alpha-thalassemia	29.4	LOC107133510 LOC106099062 HBB
6	beta-thalassemia major	29.3	LOC107133510 LOC106099062 HBB
7	sickle cell anemia	29.3	LOC107133510 LOC106099062 HBB
8	hemolytic anemia	29.2	LOC107133510 LOC106099062 HBB
9	hemosiderosis	10.3
10	rare hereditary hemochromatosis	10.3
11	paraplegia	10.1
12	pythiosis	10.1
13	splenomegaly	10.1
14	autoimmune disease	9.9
15	systemic lupus erythematosus	9.9
16	pulmonary hypertension, primary, 1	9.9
17	moyamoya disease 1	9.9
18	myelofibrosis	9.9
19	polycythemia vera	9.9
20	wilson disease	9.9
21	gallbladder disease 1	9.9
22	graft-versus-host disease	9.9
23	melioidosis	9.9
24	hypochromic microcytic anemia	9.9
25	salmonellosis	9.9
26	urinary tract infection	9.9
27	osteonecrosis	9.9
28	microcytic anemia	9.9
29	splenic sequestration	9.9
30	thrombocytopenia	9.9
31	gastroenteritis	9.9
32	antiphospholipid syndrome	9.9
33	gingivitis	9.9
34	epidural spinal canal neoplasm	9.9
35	arthropathy	9.9
36	pancreatitis	9.9
37	cerebrovascular disease	9.9
38	polycythemia	9.9
39	lupus erythematosus	9.9
40	priapism	9.9
41	chronic graft versus host disease	9.9
42	cytokine deficiency	9.9
43	growth hormone deficiency	9.9
44	encephalopathy	9.9
45	systemic autoimmune disease	9.9
46	hemoglobin d disease	9.8	LOC107133510 HBB
47	sickle cell disease	9.5	LOC107133510 LOC106099062 HBB
48	sickle cell disease and related diseases	9.5	LOC107133510 LOC106099062 HBB
49	hemoglobin zurich	9.5	LOC107133510 LOC106099062 HBB
50	beta-thalassemia intermedia	9.5	LOC107133510 LOC106099062 HBB

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 ³¹

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	immunodeficiency ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002721
2	anemia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001903
3	abnormal hemoglobin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011902
4	increased circulating ferritin concentration ³¹	frequent (33%)		HP:0003281
5	increased serum ferritin ⁵⁸		Frequent (79-30%)

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Drugs & Therapeutics for Hemoglobin E-Beta-Thalassemia Syndrome

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 ²⁹

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Anatomical Context for Hemoglobin E-Beta-Thalassemia Syndrome

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Publications for Hemoglobin E-Beta-Thalassemia Syndrome

Articles related to Hemoglobin E-Beta-Thalassemia Syndrome:

(show all 23)

#	Title	Authors	PMID	Year
1	Interaction of malaria with a common form of severe thalassemia in an Asian population. ⁶	O'Donnell A...Weatherall DJ	19841268	2009
2	Global epidemiology of haemoglobin disorders and derived service indicators. ⁶	Modell B...Darlison M	18568278	2008
3	Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. ⁶	Edison ES...Chandy M	16114182	2005
4	Genotypes and phenotypes--another lesson from the hemoglobinopathies. ⁶	Benz EJ	15470211	2004
5	The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. ⁶	Flatz G...Horst J	15481886	2004
6	Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. ⁶	Ohashi J...Tokunaga K	15114532	2004
7	The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. ⁶	Premawardhena A...Weatherall DJ	12850492	2003
8	Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. ⁶	Chotivanich K...White N	12149194	2002
9	Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. ⁶	Premawardhena A...Weatherall DJ	11425418	2001
10	Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? ⁶	Beutler E...Demina A	9653159	1998
11	Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. ⁶	Rees DC...Weatherall DJ	8839873	1996
12	Sickle cell-hemoglobin E disease: clinical findings and implications. ⁶	Rey KS...Miller ST	1960615	1991
13	Direct detection of haemoglobin E with MnlI. ⁶	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. ⁶	Orkin SH...Giardina PJ	6280057	1982
15	Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. ⁶	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. ⁶	Fairbanks VF...Fiester RF	7395858	1980
17	A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. ⁶	Weatherall DJ...Temperley IJ	4351905	1973
18	Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. ⁶	Blackwell RW...Huang JT	5658717	1968
19	Abnormal human haemoglobins. VI. The chemical difference between haemoglobins A and E. ⁶	HUNT JA...INGRAM VM	13716853	1961
20	Hypercoagulable state as demonstrated by thromboelastometry in hemoglobin E/beta-thalassemia patients: Association with clinical severity and splenectomy status. ⁶¹	Natesirinilkul R...Sanguansermsri T	26971311	2016
21	Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center. ⁶¹	Yamsri S...Fucharoen S	20509153	2010
22	Hemostatic and thrombotic markers in patients with hemoglobin E/beta-thalassemia disease. ⁶¹	Angchaisuksiri P...Rattanasiri S	17654509	2007
23	Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. ⁶¹	Ruymann FB...Brouillard RB	724294	1978

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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 ⁶ 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	Biological Region	400	Pathogenic ⁶	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	Biological Region	400	Pathogenic ⁶	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:

⁶

#	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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