MCID: HMG026
MIFTS: 23

Hemoglobin E-Beta-Thalassemia Syndrome

Categories: Blood diseases, Rare diseases

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:

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

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

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:



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 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%)

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

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

Anatomical Context for Hemoglobin E-Beta-Thalassemia Syndrome

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
19841268 2009
2
Global epidemiology of haemoglobin disorders and derived service indicators. 6
18568278 2008
3
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 6
16114182 2005
4
Genotypes and phenotypes--another lesson from the hemoglobinopathies. 6
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
15481886 2004
6
Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. 6
15114532 2004
7
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 6
12850492 2003
8
Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 6
12149194 2002
9
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 6
11425418 2001
10
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 6
9653159 1998
11
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. 6
8839873 1996
12
Sickle cell-hemoglobin E disease: clinical findings and implications. 6
1960615 1991
13
Direct detection of haemoglobin E with MnlI. 6
3031297 1987
14
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. 6
6280057 1982
15
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. 6
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
7395858 1980
17
A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. 6
4351905 1973
18
Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. 6
5658717 1968
19
Abnormal human haemoglobins. VI. The chemical difference between haemoglobins A and E. 6
13716853 1961
20
Hypercoagulable state as demonstrated by thromboelastometry in hemoglobin E/beta-thalassemia patients: Association with clinical severity and splenectomy status. 61
26971311 2016
21
Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center. 61
20509153 2010
22
Hemostatic and thrombotic markers in patients with hemoglobin E/beta-thalassemia disease. 61
17654509 2007
23
Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. 61
724294 1978

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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