MCID: HMG021
MIFTS: 27

Hemoglobin E - Beta-Thalassemia malady

Immune diseases, Blood diseases, Rare diseases categories
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Summaries for Hemoglobin E - Beta-Thalassemia

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MalaCards based summary: Hemoglobin E - Beta-Thalassemia, also known as hbe - beta-thalassemia, is related to thalassemia and beta thalassemia, and has symptoms including immunodeficiency/increased susceptibility to infections/recurrent infections, anaemia and hemoglobinosis/hemoglobinopathy. An important gene associated with Hemoglobin E - Beta-Thalassemia is HBB (hemoglobin, beta). The drug sodium phenylbutyrate has been mentioned in the context of this disorder. Affiliated tissues include spinal cord and endothelial.

Aliases & Classifications for Hemoglobin E - Beta-Thalassemia

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Sources:
48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Hemoglobin E - Beta-Thalassemia, Aliases & Descriptions:

Name: Hemoglobin E - Beta-Thalassemia 48
Hbe - Beta-Thalassemia 48
 
Beta + Thalassaemia 62
E-Beta-Thalassemia 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Immune diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
hemoglobin e - beta-thalassemia:
Inheritance: Autosomal recessive


External Ids:

ICD10 via Orphanet26 D58.2
UMLS via Orphanet63 C0472777
ICD1025 D56.1

Related Diseases for Hemoglobin E - Beta-Thalassemia

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Diseases in the Hemoglobin E - Beta-Thalassemia family:

Hemoglobin C - Beta-Thalassemia

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia11.1
2beta thalassemia11.1
3hypertension10.3
4osteonecrosis10.3
5priapism10.3
6splenic sequestration10.3
7mediastinitis10.3
8paraplegia10.3
9endotheliitis10.3
10alpha thalassemia10.3
11wilson disease10.2

Graphical network of diseases related to Hemoglobin E - Beta-Thalassemia:



Diseases related to hemoglobin e - beta-thalassemia

Symptoms for Hemoglobin E - Beta-Thalassemia

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Symptoms:

48
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • hemoglobinosis/hemoglobinopathy
  • hyperferritinemia/iron overload

HPO human phenotypes related to Hemoglobin E - Beta-Thalassemia:

id Description Frequency HPO Source Accession
1 anemia hallmark (90%) HP:0001903
2 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
3 abnormality of immune system physiology hallmark (90%) HP:0010978
4 abnormality of iron homeostasis typical (50%) HP:0011031

Drugs & Therapeutics for Hemoglobin E - Beta-Thalassemia

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Drug clinical trials:

Search ClinicalTrials for Hemoglobin E - Beta-Thalassemia

Search NIH Clinical Center for Hemoglobin E - Beta-Thalassemia

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Hemoglobin E - Beta-Thalassemia

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Anatomical Context for Hemoglobin E - Beta-Thalassemia

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MalaCards organs/tissues related to Hemoglobin E - Beta-Thalassemia:

32
Spinal cord, Endothelial

Animal Models for Hemoglobin E - Beta-Thalassemia or affiliated genes

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Publications for Hemoglobin E - Beta-Thalassemia

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Articles related to Hemoglobin E - Beta-Thalassemia:

(show all 28)
idTitleAuthorsYear
1
Treatment strategies for hemoglobin E beta-thalassemia. (22631039)
2012
2
Extramedullary hematopoiesis and paraplegia in a patient with hemoglobin e-Beta thalassemia. (20639844)
2010
3
Emerging insights in the management of hemoglobin E beta thalassemia. (20712787)
2010
4
Drug metabolizing enzyme CYP1A2 status in pediatric patients with hemoglobin E-beta thalassemia. (20043572)
2009
5
A case of Moyamoya syndrome and hemoglobin E/beta-thalassemia. (19003908)
2009
6
Endothelial dysfunction and oxidant status in pediatric patients with hemoglobin E-beta thalassemia. (17891513)
2008
7
Hemoglobin-E beta thalassemia presenting with recurrent priapism--a rare complication. (18058996)
2008
8
Hemostatic and thrombotic markers in patients with hemoglobin E/beta-thalassemia disease. (17654509)
2007
9
Hemoglobin E-beta-thalassemia: Progress report from the International Study Group. (16339649)
2005
10
Hemoglobin E-beta thalassemia: factors affecting phenotype. (15876597)
2005
11
Correction of hypercoagulability and amelioration of pulmonary arterial hypertension by chronic blood transfusion in an asplenic hemoglobin E/beta-thalassemia patient. (14645000)
2004
12
In vivo platelet activation and hyperaggregation in hemoglobin E/beta-thalassemia: a consequence of splenectomy. (12731676)
2003
13
First report of osteonecrosis of the calcaneum in a young Kuwaity female with hemoglobin E/beta thalassemia. (12942709)
2003
14
Few reports of hemoglobin E/beta-thalassemia in Northeast India: underdiagnosis or complete exclusion of beta-thalassemia by hemoglobin E. (11132230)
2000
15
Clinical and hematologic aspects of hemoglobin E beta-thalassemia. (10698297)
2000
16
Iron overload and iron-chelating therapy in hemoglobin E-beta thalassemia. (11132236)
2000
17
Introduction to the problem of hemoglobin E-beta thalassemia. (11132228)
2000
18
Hemoglobin F and hemoglobin E/beta-thalassemia. (11132232)
2000
19
Hemoglobin E beta-thalassemia: an increasingly common disease with some diagnostic pitfalls. (9602183)
1998
20
Hemoglobin E/beta thalassemia: the Canadian experience. (9668569)
1998
21
Hemoglobin E-beta thalassemia in Uttar Pradesh. (9332092)
1997
22
Efficacy and safety of oral iron chelating agent deferiprone in beta-thalassemia and hemoglobin E-beta thalassemia. (8635827)
1995
23
Combined radiotherapeutic and surgical management of a spinal cord compression by extramedullary hematopoiesis in a patient with hemoglobin E beta-thalassemia. (8091937)
1994
24
Hemoglobin E beta-thalassemia in a Pakistani family. (3148754)
1988
25
Posterior mediastinal masses in two siblings with hemoglobin E-beta thalassemia. (3486354)
1986
26
Paraparesis with hemoglobin E-beta thalassemia. (3861169)
1985
27
Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. (724294)
1978
28
Hemoglobin A2, E and F levels and the incidence of hemoglobin E, beta-thalassemia, and glucose-6-phosphate dehydrogenase deficiency in lymphoma. (4814776)
1974

Variations for Hemoglobin E - Beta-Thalassemia

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Expression for genes affiliated with Hemoglobin E - Beta-Thalassemia

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Expression patterns in normal tissues for genes affiliated with Hemoglobin E - Beta-Thalassemia

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

Pathways for genes affiliated with Hemoglobin E - Beta-Thalassemia

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Compounds for genes affiliated with Hemoglobin E - Beta-Thalassemia

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GO Terms for genes affiliated with Hemoglobin E - Beta-Thalassemia

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Products for genes affiliated with Hemoglobin E - Beta-Thalassemia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hemoglobin E - Beta-Thalassemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet