Aliases & Classifications for Hemoglobinopathy

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Sources:
9Disease Ontology, 11DISEASES, 22GTR, 43Novoseek, 3CDC, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt
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Hemoglobinopathy, Aliases & Descriptions:

Name: Hemoglobinopathy 9 11 22
 
Hemoglobinopathies 9 43 3 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:2860
MeSH33 D006453
NCIt38 C3092

Summaries for Hemoglobinopathy

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CDC:3 Hemoglobinopathies is the medical term for a group of blood disorders and diseases that affect red blood cells. These disorders include both sickle cell disease (SCD) and thalassemia.

MalaCards based summary: Hemoglobinopathy, also known as hemoglobinopathies, is related to iron deficiency anemia and heinz body anemia. An important gene associated with Hemoglobinopathy is HFE2 (hemochromatosis type 2 (juvenile)), and among its related pathways are African trypanosomiasis and Selenium Pathway. The compounds 5-aminolevulinic acid and zinc protoporphyrin have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and bone marrow, and related mouse phenotypes are liver/biliary system and integument.

Wikipedia:63 Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin... more...

Related Diseases for Hemoglobinopathy

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Diseases related to Hemoglobinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1iron deficiency anemia30.6EPO
2heinz body anemia30.5HBA2
3fetal hemoglobin quantitative trait locus 130.5HBB
4hydrops fetalis30.5HBA2, HBB
5methemoglobinemia30.5HP
6sickle cell anemia30.4HBB, HP
7thalassemia, hispanic gamma-delta-beta30.4HBB, HBA2
8plasmodium falciparum malaria30.1HP, HBB
9thalassemias, alpha-30.0HBB, HBA2, HBA1
10malaria29.9PECAM1, HBA2, HBB, HP
11polycythemia29.9HBA2, HBB, EPO
12hemolytic anemia29.8HP, EPO, HBB, HBA2
13sickle cell disease29.7ALAS2, HP, EPO, HBB, HBA2, HBD
14thalassemia29.3HBD, HBS1L, HAMP, HBA1, HBA2, HBB
15deficiency anemia28.9HFE2, ALAS2, HP, EPO, HBB, HBA2
16favism10.4HP
17hemochromatosis type 210.4HFE2, HAMP
18aceruloplasminemia10.4HAMP, HFE2
19pulmonary hypertension10.3
20hemoglobin h disease, nondeletional10.3HBA1, HBA2
21classic kaposi sarcoma10.3HBA2, HBA1
22hematopoietic stem cell transplantation10.3
23vascular cancer10.3HBA2, HBA1
24epithelioid sarcoma10.3HBA1, HBA2
25capillary hemangioma10.3HBA1, HBA2
26hemochromatosis10.2HAMP, HP, HFE2
27hemangiopericytoma10.2HBA2, HBA1
28hemoglobinemia10.2HBB, HP
29hereditary spherocytosis10.2HBA2, HBB
30refractory anemia10.2EPO, ALAS2
31pancytopenia10.2EPO, HP
32gaucher's disease10.2
33meningitis10.2
34hemoglobinopathy toms river10.2
35lymphangioma10.1HBA2, HBA1, PECAM1
36hemangioma10.1HBA2, HBA1, PECAM1
37microcytic anemia10.1HBA2, EPO, ALAS2
38kidney disease10.1HP, HBA2, HAMP
39polycystic kidney disease10.1EPO, HBA2
40cystic fibrosis10.1
41migraine10.1
42hemoglobin c disease10.1
43cholelithiasis10.1
44glucose-6-phosphate dehydrogenase deficiency10.1
45angioid streaks10.1
46osteomyelitis10.1
47congenital heart disease10.1HP, HBA2, HBA1
48thrombocytosis10.1HP, EPO
49splenomegaly10.0HBA2, EPO, HP
50vascular disease10.0HP, HBA2, HBA1

Graphical network of the top 20 diseases related to Hemoglobinopathy:



Diseases related to hemoglobinopathy

Symptoms for Hemoglobinopathy

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Drugs & Therapeutics for Hemoglobinopathy

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Drug clinical trials:

Search ClinicalTrials for Hemoglobinopathy

Search NIH Clinical Center for Hemoglobinopathy

Genetic Tests for Hemoglobinopathy

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Genetic tests related to Hemoglobinopathy:

id Genetic test Affiliating Genes
1 Hemoglobinopathy22

Anatomical Context for Hemoglobinopathy

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MalaCards organs/tissues related to Hemoglobinopathy:

31
Testes, Bone, Bone marrow, Eye, Heart, Spleen, Skeletal muscle, Kidney, Lung

Animal Models for Hemoglobinopathy or affiliated genes

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MGI Mouse Phenotypes related to Hemoglobinopathy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4HFE2, HP, EPO, HBB, PECAM1
2MP:00107718.2HBA2, HBB, EPO, ALAS2, HFE2, KLF10
3MP:00053877.6HAMP, PECAM1, HBB, SAMHD1, HP, BCL11A
4MP:00053847.2PECAM1, HBA2, EPO, SAMHD1, HP, BCL11A
5MP:00053976.9HAMP, PECAM1, HBA2, HBB, EPO, HP
6MP:00053766.6KLF10, HAMP, PECAM1, HBA2, HBB, EPO
7MP:00107686.5HAMP, HBA1, HBA2, HBB, EPO, SAMHD1

Publications for Hemoglobinopathy

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Articles related to Hemoglobinopathy:

(show top 50)    (show all 303)
idTitleAuthorsYear
1
Hyperhemolysis syndrome in a patient without a hemoglobinopathy, unresponsive to treatment with eculizumab. (25257194)
2014
2
Efficiency of recombinant erythropoietin administration in hemoglobinopathy H. (24523332)
2014
3
Hemoglobin SO-Arab and I+-thalassemia diagnosed in an adult: A case-based review of the hemoglobinopathies. (23221516)
2013
4
Hemoglobinopathy carrier prevalence in the United Arab Emirates: first analysis of the Dubai Health Authority premarital screening program results. (23647352)
2013
5
Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China. (23383304)
2013
6
Asthma and hemoglobinopathy: when is supplemental oxygen required? (24134768)
2013
7
Evaluation of Novel Fetal Hemoglobin Inducer Drugs in Treatment of I^-Hemoglobinopathy Disorders. (24505535)
2013
8
Factors that influence parents' experiences with results disclosure after newborn screening identifies genetic carrier status for cystic fibrosis or sickle cell hemoglobinopathy. (22240007)
2013
9
KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in I^-hemoglobinopathy patients. (23057549)
2012
10
I^-Thalassemia mutations and hemoglobinopathies in Adana, Turkey: results from a single center study. (22851993)
2012
11
Challenges in hemoglobinopathy testing. (22452159)
2012
12
A silent composite hemoglobinopathy characterized by gene sequencing. (23461145)
2011
13
Transition of chronically ill youth to adult health care: experience of youth with hemoglobinopathy. (21867855)
2011
14
A novel sickling hemoglobinopathy. (22010933)
2011
15
Incomplete follow-up of hemoglobinopathy carriers identified by newborn screening despite reporting in electronic medical records. (22364053)
2011
16
Influence of glutathione S-transferase A1, P1, M1, T1 polymorphisms on oral busulfan pharmacokinetics in children with congenital hemoglobinopathies undergoing hematopoietic stem cell transplantation. (20672371)
2010
17
Diagnosis of hemoglobinopathies in newborns in Venezuela hospitals]. (19775947)
2009
18
Evolution of hemoglobinopathy prevention in Africa: results, problems and prospect. (21415987)
2009
19
Newborn screening for non-sickling hemoglobinopathies. (20008178)
2009
20
Nutritional deficiencies in iron overloaded patients with hemoglobinopathies. (19415722)
2009
21
Target cells and hemoglobinopathy. (18763357)
2008
22
Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country. (17301974)
2007
23
Hemoglobinopathy control program in Turkey. (16612063)
2006
24
Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil. (15692663)
2005
25
Screening for thalassemia and hemoglobinopathy in a rural area of Thailand: a preliminary study. (16862674)
2005
26
Hemoglobinopathy and pattern of musculoskeletal infection in children. (14977282)
2004
27
The affinity of hemoglobin for oxygen affects ventilatory responses in mutant mice with Presbyterian hemoglobinopathy. (12829441)
2003
28
Model mice for Presbyterian hemoglobinopathy (Asn(beta108)-->Lys) confer hemolytic anemia with altered oxygen affinity and instability of Hb. (12127975)
2002
29
Prevention of hemoglobinopathies in non-endemic countries]. (11475037)
2001
30
Proficiency testing of hemoglobinopathy techniques in Ontario laboratories. (9128270)
1997
31
Tissue oxygenation in patients with hemoglobinopathy H. (9211537)
1997
32
Accuracy of neurologic examination and history in detecting evidence of MRI-diagnosed cerebral infarctions in children with sickle cell hemoglobinopathy. (7782614)
1995
33
Pseudoparaproteinemia due to hemoglobinopathy. (7656447)
1995
34
Total hip arthroplasty in sickle cell hemoglobinopathy. (8358906)
1993
35
Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain. (17587043)
1992
36
Prenatal hemoglobinopathy screening. (1608146)
1992
37
Human pythiosis associated with thalassemia hemoglobinopathy syndrome. (2644370)
1989
38
Sickle cell E hemoglobinopathy and pregnancy. (3347442)
1988
39
Lung function in sickle cell hemoglobinopathy patients compared with healthy subjects. (3418733)
1988
40
Silver nitrate irrigation for hematuria from sickle cell hemoglobinopathy. (3586154)
1987
41
Hemoglobinopathies in Japan. (7275668)
1981
42
Red cell exchange in the pregnancy complicated by a major hemoglobinopathy. (7424983)
1980
43
Radiologic manifestations of sickle cell hemoglobinopathy. (141531)
1977
44
Sickle hemoglobinopathy and Edwardsiella tarda meningitis. (4415769)
1974
45
Retinopathy in hemoglobin C trait (AC hemoglobinopathy). (4819450)
1974
46
Screening for sickle cell hemoglobinopathy and thalassemia. (4775114)
1973
47
Introduction to discussion of Heinz body anemias--unstable hemoglobinopathies. (4941678)
1971
48
Sickle cell hemoglobinopathy in children. (5711418)
1968
49
Polycythemia associated with a hemoglobinopathy. (5913291)
1966
50
Thalassemia minor associated with pregnancy. Report of a case and brief discussion of hemoglobinopathies. (5907374)
1966

Variations for Hemoglobinopathy

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Expression for genes affiliated with Hemoglobinopathy

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Search GEO for disease gene expression data for Hemoglobinopathy.

Pathways for genes affiliated with Hemoglobinopathy

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Compounds for genes affiliated with Hemoglobinopathy

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR, 49PharmGKB
See all sources

Compounds related to Hemoglobinopathy according to GeneCards Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
15-aminolevulinic acid43 2410.8HBB, ALAS2
2zinc protoporphyrin439.8EPO, HP
3hind iii439.7HP, HBB
4succinylacetone439.7EPO, HBB
5cellulose acetate439.7HP, HBA2
6vitamin b6439.7EPO, ALAS2
7hmba439.6HBB, HBA2
8protoporphyrin ix43 24 1211.6EPO, HP, ALAS2
9deferoxamine43 1210.4EPO, HP
10sialic acid439.4PECAM1, EPO, HP
11iron dextran43 1210.4HBA1, HBB, EPO
12heme28 24 1211.4ALAS2, HBB, HBA1, HBD
13benzidine439.4HP, EPO, HBB
14hydroxyurea43 49 1211.3HBA2, HBB, EPO
15butyrate439.0HBA2, HBB, EPO, ALAS2
16aspartate438.9HBB, EPO, HP, ALAS2
1723-diphosphoglycerate438.9HBA2, HBB, EPO, HP
18thymidine43 249.8EPO, HBB, HBA2, PECAM1
19alanine438.8ALAS2, HP, HBB, HBA2
20methionine438.8HP, HBB, HBA2
21atp43 289.7PECAM1, HBA2, HBB, HP, ALAS2
22oxygen43 248.8HAMP, PECAM1, HBD, HBA1, HBA2, HBB
23iron43 248.8HFE2, HAMP, HBA1, HBA2, HBB, EPO

GO Terms for genes affiliated with Hemoglobinopathy

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Cellular components related to Hemoglobinopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:00058339.3HBD, HBA2, HBB
2haptoglobin-hemoglobin complexGO:00318389.2HP, HBB, HBA2
3endocytic vesicle lumenGO:00716829.1HP, HBB, HBA2
4blood microparticleGO:00725628.7HBD, HBA2, HBB, HP
5extracellular regionGO:00055768.0HAMP, HBA2, HBB, EPO, HP
6extracellular vesicular exosomeGO:00700627.9HP, HBB, HBA2, HBS1L, PECAM1

Biological processes related to Hemoglobinopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:00425419.7EPO, ALAS2
2bicarbonate transportGO:00157019.5HBB, HBA2
3oxygen transportGO:00156719.4HBB, HBA2
4positive regulation of cell deathGO:00109429.2HP, HBB, HBA2
5hydrogen peroxide catabolic processGO:00427449.2HBB, HBA2
6response to hydrogen peroxideGO:00425429.2HP, HBB, HBA2

Molecular functions related to Hemoglobinopathy according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:00317209.6HBA2, HBB
2hemoglobin bindingGO:00304929.6HP, HBB
3oxygen transporter activityGO:00053449.4HBB, HBA2, HBD
4oxygen bindingGO:00198259.4HBB, HBA2, HBD
5heme bindingGO:00200379.2HBB, HBA2, HBD
6peroxidase activityGO:00046019.2HBB, HBA2
7iron ion bindingGO:00055069.1HBD, HBA2, HBB
8protein bindingGO:00055157.1HBA2, HBB, EPO, SAMHD1, HP, ALAS2

Products for genes affiliated with Hemoglobinopathy

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Sources for Hemoglobinopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet