MCID: HMG003
MIFTS: 40

Hemoglobin E Disease malady

Blood category

Summaries for Hemoglobin E Disease

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Hemoglobin e (hbe) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin e. people with this condition have red blood cells that are smaller than normal and have an irregular shape. hbe disease is thought to be a benign condition. it is inherited in an autosomal recessive pattern and is caused by a particular mutation in the hbb gene. the mutation that causes hemoglobin e disease has the highest frequency among people of southeast asian heritage (cambodian, laotian, vietnamese and thai). however, it is also found in people of chinese, filipino, asiatic indian, and turkish descent. last updated: 5/5/2011

MalaCards: Hemoglobin E Disease, also known as hb-e disease, is related to thalassemia and sickle cell disease. An important gene associated with Hemoglobin E Disease is HBB (hemoglobin, beta), and among its related pathways are Selenium Pathway and Complement and coagulation cascades. The compounds monoethylglycinexylidide and hind iii have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, heart and kidney.

Aliases & Classifications for Hemoglobin E Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hemoglobin e disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

hemoglobin e disease 8 43 20 22 10 49 61
hb-e disease 8


External Ids:

Disease Ontology8 DOID:5379
NCIt40 C35287
ICD10 via Orphanet26 D58.2
SNOMED-CT57 25065001
SNOMED-CT via Orphanet58 25065001
UMLS via Orphanet62 C0238159

Related Diseases for Hemoglobin E Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia31.2HBD, HBB
2sickle cell disease30.5HBB, HBD
3hemoglobin d disease10.9
4hemoglobin c disease10.8
5beta thalassemia10.8
6hemoglobin c - beta-thalassemia10.7
7hemoglobin s beta-thalassemia10.6
8sickle cell - hemoglobin d disease10.4
9sickle cell - hemoglobin c disease10.4
10hemoglobin e - beta-thalassemia10.4
11sickle cell - hemoglobin e disease10.3
12alpha thalassemia10.2
13thrombotic thrombocytopenic purpura10.1
14tuberculosis10.1
15purpura fulminans10.0F5
16homocysteinemia10.0F5
17central retinal vein occlusion10.0F5
18factor xii deficiency10.0F5
19patent foramen ovale10.0F5
20malaria10.0HBB
21hemochromatosis10.0HBB
22polycythemia10.0HBB
23retinal vein occlusion10.0F5
24ovarian hyperstimulation syndrome10.0F5
25hellp syndrome10.0F5
26klinefelter's syndrome10.0HBB
27von willebrand's disease10.0F2
28sickle cell anemia10.0HBB, HBD
29varicose veins10.0F2
30stroke, ischemic10.0F2, F5
31prothrombin deficiency10.0F5, F2
32factor x deficiency10.0F2, F5
33thrombocytosis10.0F2
34factor v deficiency10.0F2, F5
35blood protein disease10.0F2, F5
36antithrombin iii deficiency10.0F5, F2
37factor xi deficiency10.0F5, F2
38dysfibrinogenemia10.0F5, F2
39hemorrhagic disease10.0F5, F2
40factor vii deficiency10.0F5, F2
41afibrinogenemia10.0F5, F2
42factor viii deficiency10.0F5, F2
43thromboembolism10.0F5, F2
44scott syndrome10.0F5, F2
45pregnancy loss10.0F2, F5
46portal vein thrombosis10.0F5, F2
47galactosemia10.0F5, F2
48protein c deficiency10.0F2, F5
49placental abruption10.0F2, F5
50venous thrombosis10.0F5, F2

Graphical network of the top 20 diseases related to Hemoglobin E Disease:



Diseases related to hemoglobin e disease

Clinical Features for Hemoglobin E Disease

Drugs & Therapeutics for Hemoglobin E Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hemoglobin E Disease

Drug clinical trials:

Search ClinicalTrials for Hemoglobin E Disease

Search NIH Clinical Center for Hemoglobin E Disease

Search CenterWatch for Hemoglobin E Disease

Genetic Tests for Hemoglobin E Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hemoglobin E Disease:

id Genetic test Affiliating Genes
1 Hemoglobin E20 22 HBB

Anatomical Context for Hemoglobin E Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Hemoglobin E Disease:

33
Bone marrow, Heart, Kidney, Lung, B cells, Fetal lung

Animal Models for Hemoglobin E Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hemoglobin E Disease

Sources:
51PubMed
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Articles related to Hemoglobin E Disease:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Fecal hemoglobin and calprotectin are equally effective in identifying patients with inflammatory bowel disease with active endoscopic inflammation. (24374878)
2014
2
Gigantic splenomegaly in a 27-year-old male of South-East Asian descent with concurrent diagnosis of myeloproliferative neoplasm and hemoglobin H disease. (23672282)
2013
3
Minor hemoglobins HbA2 and HbF associate with disease severity in bipolar disorder with a likely protective role of HbA2 against post-partum episodes. (23856286)
2013
4
Validation of a noninvasive pulse CO-oximetry-based hemoglobin estimation in patients with sickle cell disease. (23480669)
2013
5
Hematologic and hemorheological determinants of resting and exercise-induced hemoglobin oxygen desaturation in children with sickle cell disease. (23539539)
2013
6
Effect of scaling and root planing on erythrocyte count, hemoglobin and hematocrit in patients with chronic periodontal disease. (22947842)
2012
7
Thrombotic thrombocytopenic purpura in a patient with hemoglobin E disease-the importance of timely examination of a blood film. (22473629)
2012
8
Hemoglobin level and survival in hemodialysis patients with polycystic kidney disease and the role of administered erythropoietin. (22641426)
2012
9
Protective role of hemoglobin and fetal hemoglobin in early kidney disease for children with sickle cell anemia. (21523807)
2011
10
Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family. (20556388)
2011
11
Correction of murine sickle cell disease using gamma-globin lentiviral vectors to mediate high-level expression of fetal hemoglobin. (19050697)
2009
12
Deoxygenated hemoglobin/myoglobin kinetics of forearm muscles from rest to exercise in patients with chronic obstructive pulmonary disease. (19155602)
2009
13
Non-cancer uses of histone deacetylase inhibitors: effects on infectious diseases and beta-hemoglobinopathies. (19355991)
2009
14
Complement fraction 3 binding on erythrocytes as additional mechanism of disease in paroxysmal nocturnal hemoglobinuria patients treated by eculizumab. (19179465)
2009
15
Hemoglobin targets in anemic patients with chronic kidney disease treated with erythropoietin]. (18054410)
2008
16
Combination index of soluble transferrin receptor and mean corpuscular hemoglobin for evaluating iron deficiency in end-stage renal disease. (17013644)
2007
17
Stability of target hemoglobin levels during the first year of epoetin treatment in patients with chronic kidney disease. (17724278)
2007
18
Update on erythropoietin treatment: should hemoglobin be normalized in patients with chronic kidney disease? (16565252)
2006
19
Darbepoetin alfa administered every other week maintains hemoglobin levels over 52 weeks in patients with chronic kidney disease converting from once-weekly recombinant human erythropoietin: results from simplify the treatment of anemia with Aranesp (STAAR). (16636531)
2006
20
Investigation of persistent hypochromic microcytosis unmasks hemoglobin Evanston [alpha 14 (A12) Try--> Arg] in a patient of cyclic thrombocytopenia preceding Takayasu's disease. (16273737)
2005
21
Should the target hemoglobin for patients with chronic kidney disease treated with erythropoietic replacement therapy be changed? (15663760)
2005
22
Clinical studies with fetal hemoglobin-enhancing agents in sickle cell disease. (15534852)
2004
23
The effect of erythropoietin therapy and hemoglobin levels on the immune response to Engerix-B vaccination in chronic kidney disease. (12803511)
2003
24
Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency. (16868367)
2003
25
Effects of 5-aza-2'-deoxycytidine on fetal hemoglobin levels, red cell adhesion, and hematopoietic differentiation in patients with sickle cell disease. (12907443)
2003
26
A human embryonic hemoglobin inhibits Hb S polymerization in vitro and restores a normal phenotype to mouse models of sickle cell disease. (12124399)
2002
27
N-RAS gene mutation in patients with aplastic anemia and aplastic anemia/ paroxysmal nocturnal hemoglobinuria during evolution to clonal disease. (10627475)
2000
28
Synthesized allosteric effectors of the hemoglobin molecule: a possible mechanism for improved erythrocyte oxygen release capability in hemoglobinopathy H disease. (9728926)
1998
29
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. (9140302)
1997
30
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. (9140301)
1997
31
PNH--paroxysmal nocturnal hemoglobinuria. An old disease explained by new technology]. (9424527)
1997
32
Augmentation by erythropoietin of the fetal-hemoglobin response to hydroxyurea in sickle cell disease. (7677965)
1993
33
Erythrocyte glucose-6-phosphate dehydrogenase and pyruvate kinase activities in hemoglobin H disease. (1523481)
1992
34
Influence of splenectomy on the properties of erythrocytes with hemoglobin Volga disease. (2029781)
1991
35
Genetic screening of newborns for sickle cell disease: correlation of DNA analysis with hemoglobin electrophoresis. (2004456)
1991
36
Early rapid diagnosis of acute manifestations of ischemic heart disease in the pre-hospitalization period using the myoglobin-latex test (correction of hemoglobin-latex-text)]. (1805054)
1991
37
Acute renal failure in a patient with essential thrombocythemia, diabetes mellitus, and heterozygous hemoglobin C disease. (2300836)
1990
38
Down syndrome complicated by hemoglobin S/beta+ thalassemia. Atypical expression of coexistent disease. (2141809)
1990
39
Hemoglobin H disease with hemoglobin Constant Spring in a child of Laotian extraction. (3764529)
1986
40
Regulation of cation content and cell volume in hemoglobin erythrocytes from patients with homozygous hemoglobin C disease. (3998150)
1985
41
Acquired hemoglobin H disease in a case of refractory anemia with excess of blasts (RAEB) evolving into acute nonlymphoid leukemia. (6433631)
1984
42
Exophthalmos in hemoglobin SC disease. (6848736)
1983
43
Extramedullary hematopoiesis of cranial dura mater and choroid plexus and terminal convulsions in a patient with thalassemia-hemoglobin E disease. (512525)
1979
44
Enhanced red cell oxygen transport in a pregnant woman with hemoglobin SD disease. (703992)
1978
45
Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. (724294)
1978
46
Hemoglobin Constant Spring, and unusual alpha-chain variant involved in the etiology of hemoglobin H disease. (4606609)
1974
47
Fractionation studies of copper in erythrocytes from normal, sickle cell anemia, and hemoglobin C disease. (5423505)
1970
48
Molecular mechanism of hemolytic anemia in homozygous hemoglobin C disease. Electron microscopic study by the freeze-etching technique. (5807277)
1969
49
Bone marrow and fat embolism in sickle cell anemia and sickle cell-hemoglobin C disease. (13560993)
1958
50
Sickle-cell-hemoglobin-C disease; report of a case with electrophoretic studies of hemoglobin in family members. (13275117)
1956

Genetic Variations for Hemoglobin E Disease

Expression for genes affiliated with Hemoglobin E Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobin E Disease

Search GEO for disease gene expression data for Hemoglobin E Disease.

Pathways for genes affiliated with Hemoglobin E Disease

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 53R&D Systems, 52QIAGEN
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Pathways related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5F2, HBB
2
Hide members
9.3F2, F5
3
Hide members
9.3F5, F2
4
Hide members
9.3F2, F5
5
Hide members
9.0HBB, HBD, F5

Compounds for genes affiliated with Hemoglobin E Disease

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 2BitterDB, 60Tocris Bioscience, 29IUPHAR, 24HMDB
See all sources

Compounds related to Hemoglobin E Disease according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1monoethylglycinexylidide4510.3F5
2hind iii459.8HBB, F5
3inogatran459.8F2, F5
4ecarin459.8F5, F2
5hirugen459.8F5, F2
6spectrozyme459.8F5, F2
7danaparoid459.7F2, F5
8batroxobin459.7F2, F5
9kaolin459.7F5, F2
10ancrod459.7F5, F2
11ximelagatran45 1110.7F5, F2
12heparinoids459.7F2, F5
13fondaparinux459.7F5, F2
14Drotrecogin alfa119.7F5, F2
15acenocoumarol45 50 1111.7F5, F2
16bivalirudin45 1110.7F5, F2
17desogestrel45 1110.7F2, F5
18argatroban45 1110.7F2, F5
19protamine sulfate459.7F5, F2
20gestodene45 1110.7F2, F5
21ofloxacin45 2 1111.7F2, F5
22penicillin459.7F5, F2
23antipyrine45 1110.7F2, F5
24ristocetin459.6F5, F2
25gamma-carboxyglutamic acid459.6F2, F5
26cyproteroneacetate459.6F5, F2
27levonorgestrel45 60 29 1112.6F2, F5
28desmopressin45 60 29 1112.6F2, F5
29coumarin45 2 50 2412.6F2, F5
30cardiolipin45 1110.6F5, F2
31hirudin459.5F2, F5
32phosphatidylethanolamine45 1110.5F2, F5
33dermatan sulfate459.5F5, F2
34kininogen459.4F5, F2
35protamine459.4F2, HBB, F5
36aprotinin45 1110.3F2, F5
37acetaminophen45 2 50 11 2413.2F5, F2
38tamoxifen45 50 29 1112.2F5, HBB, F2
39lactate459.0F2, HBB, F5
40pge1459.0F2, F5
41aspartate458.9F2, HBB, F5

GO Terms for genes affiliated with Hemoglobin E Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:0058339.6HBB, HBD

Biological processes related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075968.5F2, HBB, HBD, F5

Molecular functions related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen bindingGO:0198259.6HBB, HBD
2oxygen transporter activityGO:0053449.3HBB, HBD

Products for genes affiliated with Hemoglobin E Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin E Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet