MCID: HMG021
MIFTS: 25

Hemoglobin E - Beta-Thalassemia malady

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

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33MalaCards
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MalaCards: Hemoglobin E - Beta-Thalassemia, also known as hemoglobin e/beta thalassemia disease, is related to beta thalassemia and 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). Affiliated tissues include spinal cord and endothelial.

Aliases & Classifications for Hemoglobin E - Beta-Thalassemia

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49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hemoglobin e - beta-thalassemia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

hemoglobin e - beta-thalassemia 49
hemoglobin e/beta thalassemia disease 62
hbe - beta-thalassemia 49
e-beta-thalassemia 49


External Ids:

ICD10 via Orphanet26 D58.2
SNOMED-CT via Orphanet59 234392002
UMLS via Orphanet63 C0472777

Related Diseases for Hemoglobin E - Beta-Thalassemia

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17GeneCards, 18GeneDecks
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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:

idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia11.1
2thalassemia11.1
3priapism10.3
4splenic sequestration10.3
5osteonecrosis10.3
6hypertension10.3
7paraplegia10.3
8endotheliitis10.3
9alpha thalassemia10.3
10wilson 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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49Orphanet
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Symptoms:

49
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • hemoglobinosis/hemoglobinopathy
  • hyperferritinemia/iron overload

Drugs & Therapeutics for Hemoglobin E - Beta-Thalassemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Hemoglobin E - Beta-Thalassemia

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Anatomical Context for Hemoglobin E - Beta-Thalassemia

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33MalaCards
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MalaCards organs/tissues related to Hemoglobin E - Beta-Thalassemia:

33
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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52PubMed
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Articles related to Hemoglobin E - Beta-Thalassemia:

(show all 27)
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
Paraparesis with hemoglobin E-beta thalassemia. (3861169)
1985
26
Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. (724294)
1978
27
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Hemoglobin E - Beta-Thalassemia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet