MCID: HMG026
MIFTS: 28

Hemoglobin E-Beta-Thalassemia Syndrome

Categories: Blood diseases, Rare diseases
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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 28 5 71
Hbe-Beta-Thalassemia Syndrome 58
E-Beta-Thalassemia 58

Characteristics:


Inheritance:

Autosomal recessive 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 32 D58.2
UMLS via Orphanet 72 C0472777
Orphanet 58 ORPHA231249
SNOMED-CT via HPO 69 165397008 234532001 271737000
UMLS 71 C0472777

Summaries for Hemoglobin E-Beta-Thalassemia Syndrome

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

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:



Diseases related to Hemoglobin E-Beta-Thalassemia Syndrome

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%)

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

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

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

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
12850492 2003
2
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. 62 5
8839873 1996
3
Interaction of malaria with a common form of severe thalassemia in an Asian population. 5
19841268 2009
4
Global epidemiology of haemoglobin disorders and derived service indicators. 5
18568278 2008
5
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 5
16114182 2005
6
Genotypes and phenotypes--another lesson from the hemoglobinopathies. 5
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
15481886 2004
8
Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. 5
15114532 2004
9
Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 5
12149194 2002
10
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 5
11425418 2001
11
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 5
9653159 1998
12
Sickle cell-hemoglobin E disease: clinical findings and implications. 5
1960615 1991
13
Direct detection of haemoglobin E with MnlI. 5
3031297 1987
14
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. 5
6280057 1982
15
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. 5
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
7395858 1980
17
A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. 5
4351905 1973
18
Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. 5
5658717 1968
19
Abnormal human haemoglobins. VI. The chemical difference between haemoglobins A and E. 5
13716853 1961
20
Spectrum of hemoglobinopathies with hematological and biochemical profile: A five year experience from a tertiary care hospital. 62
36415225 2022
21
Non-Transfusion-Dependent Thalassemia: A Panoramic Review. 62
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
35986658 2022
23
Leg Ulcers: A Report in Patients with Hemoglobin E Beta Thalassemia and Review of the Literature in Severe Beta Thalassemia. 62
34753145 2022
24
Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia. 62
35911837 2022
25
Evaluation of Vascular Health of E-Beta Thalassemia Patients: Effect of Iron Overload. 62
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
33610115 2021
27
Correction of Hemoglobin E/Beta-Thalassemia Patient-Derived iPSCs Using CRISPR/Cas9. 62
33336279 2021
28
Hemoglobin Disorders Among Anemic Patients: a Cross-Sectional Study from Jeddah City, Western Saudi Arabia. 62
33337829 2020
29
A Rare Case of Hemoglobin E/Beta-Thalassemia and Systemic Lupus Erythematosus. 62
33052293 2020
30
Efficacy of Dichlorophenolindophenol (DCIP) as Screening Test for Hb E: Revisited. 62
32647429 2020
31
Thalidomide in Patients with Transfusion-Dependent E-Beta Thalassemia Refractory to Hydroxyurea: A Single-Center Experience. 62
32425398 2020
32
Prevalence of endocrine complications in transfusion dependent thalassemia in Hospital Pulau Pinang: A pilot study. 62
32008017 2020
33
Phenotypic Diversity and Clinico-Hematological Profile of Hb E-Beta Thalassemic Children. 62
32158093 2020
34
Defective cytokine production from monocytes/macrophages of E-beta thalassemia patients in response to Pythium insidiosum infection. 62
30765134 2019
35
Gallstone Pancreatitis and Extramedullary ArticleTitlespinal Hematopoiesis in Hb E/beta Thalassemia. 62
31304716 2019
36
Moyamoya syndrome in hemoglobin E-beta thalassemia: A rare presentation and association. 62
29943740 2018
37
Feasibility and Safety of Chorionic Villus Sampling (CVS) for Prenatal Diagnosis of Thalassemia in Bangladesh. 62
30141449 2018
38
Clinico-hematological Profile of Hb E-β Thalassemia-Prospective Analysis in a tertiary Care Centre. 62
31331134 2018
39
One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system. 62
29482624 2018
40
Spinal cord compression due to extramedullary hematopoiesis in a patient with E-beta-thalassemia managed without radiation or surgery. 62
30181838 2018
41
Hydroxyurea for hemoglobin E/β-thalassemia: a systematic review and meta-analysis. 62
28786080 2017
42
Hypercoagulable state as demonstrated by thromboelastometry in hemoglobin E/beta-thalassemia patients: Association with clinical severity and splenectomy status. 62
26971311 2016
43
Correlation of BACH1 and Hemoglobin E/Beta-Thalassemia Globin Expression. 62
26377036 2016
44
Non-transfusion-dependent thalassemia and thalassemia intermedia: epidemiology, complications, and management. 62
26479125 2016
45
[Current management of thalassemia intermedia]. 62
25282488 2014
46
Intrathoracic extramedullary hematopoiesis in E-beta thalassemia. 62
25118758 2014
47
Posterior reversible encephalopathy syndrome after transfusion in Hb E-beta thalassemia. 62
24986299 2014
48
Post-transfusion hypertension and seizure in congenital hemolytic anemia: a case report and literature review. 62
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
24826050 2012
50
Treatment strategies for hemoglobin E beta-thalassemia. 62
22631039 2012

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

Expression for Hemoglobin E-Beta-Thalassemia Syndrome

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

Pathways for Hemoglobin E-Beta-Thalassemia Syndrome

GO Terms for Hemoglobin E-Beta-Thalassemia Syndrome

Sources for Hemoglobin E-Beta-Thalassemia Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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