MCID: HMG026
MIFTS: 19

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 59
Hemoglobin E/beta Thalassemia Disease 29 6 73
Hbe-Beta-Thalassemia Syndrome 59
E-Beta-Thalassemia 59

Characteristics:

Orphanet epidemiological data:

59
hemoglobin e-beta-thalassemia syndrome
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Orphanet 59 ORPHA231249
UMLS via Orphanet 74 C0472777
ICD10 via Orphanet 34 D58.2
SNOMED-CT via HPO 69 165397008 271737000 234532001
UMLS 73 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 anemia and immunodeficiency

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 all 12)
# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 10.7
2 thalassemia 10.7
3 priapism 9.9
4 endotheliitis 9.9
5 pulmonary hypertension, primary, 1 9.9
6 wilson disease 9.9
7 osteonecrosis 9.9
8 lymphoma 9.9
9 splenic sequestration 9.9
10 hemosiderosis 9.9
11 paraplegia 9.9
12 mediastinitis 9.9

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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
2 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
3 increased serum ferritin 59 32 frequent (33%) Frequent (79-30%) HP:0003281
4 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902

Drugs & Therapeutics for Hemoglobin E-Beta-Thalassemia Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1/2 Study of HQK-1001 in Patients With 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:

# Title Authors Year
1
Hemostatic and thrombotic markers in patients with hemoglobin E/beta-thalassemia disease. ( 17654509 )
2007
2
Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. ( 724294 )
1978

Variations for Hemoglobin E-Beta-Thalassemia Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
2 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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