MCID: HMG005
MIFTS: 51

Hemoglobinopathy malady

Blood diseases category

Summaries for Hemoglobinopathy

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66Wikipedia, 34MalaCards
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Wikipedia:66 Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin... more...

MalaCards: Hemoglobinopathy, also known as hemoglobinopathies, is related to beta thalassemia and alpha thalassemia. 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 bone, bone marrow and testes, and related mouse phenotypes are liver/biliary system and integument.

Aliases & Classifications for Hemoglobinopathy

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Sources:
9Disease Ontology, 23GTR, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt
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Classifications:

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


Aliases & Descriptions:

hemoglobinopathy 9 23 11
hemoglobinopathies 9 46 63


External Ids:

Disease Ontology9 DOID:2860
MeSH36 D006453
NCIt41 C3092

Related Diseases for Hemoglobinopathy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Hemoglobinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia30.6HBB, HBA2
2alpha thalassemia30.3HBB, HBA2, HBA1
3hydrops fetalis30.3HBA2, HBB
4hereditary persistence of fetal hemoglobin30.2HBB
5iron deficiency anemia30.2EPO
6sickle cell disease30.2ALAS2, HP, EPO, HBB, HBA2, HBD
7sickle cell anemia30.2HBB, HP
8malaria30.0PECAM1, HBA2, HBB, HP
9hemolytic anemia30.0HP, EPO, HBB, HBA2
10heinz body anemia30.0HBA2
11methemoglobinemia30.0HP
12plasmodium falciparum malaria29.9HP, HBB
13polycythemia29.8HBA2, HBB, EPO
14diabetes mellitus29.8PECAM1, HBA1, HBA2, HP
15deficiency anemia29.8HFE2, ALAS2, HP, EPO, HBB, HBA2
16thalassemia10.7
17hypertension10.3
18hematopoietic stem cell transplantation10.2
19gaucher's disease10.1
20meningitis10.1
21thalassemia, hispanic gamma-delta-beta10.1
22favism10.1HP
23hemochromatosis type 210.1HFE2, HAMP
24aceruloplasminemia10.1HAMP, HFE2
25hemoglobin h disease, nondeletional10.1HBA1, HBA2
26kaposi's sarcoma10.1HBA2, HBA1
27vascular cancer10.1HBA2, HBA1
28epithelioid sarcoma10.1HBA1, HBA2
29capillary hemangioma10.1HBA1, HBA2
30hemochromatosis10.1HAMP, HP, HFE2
31hemangiopericytoma10.1HBA2, HBA1
32hemoglobinemia10.1HBB, HP
33cystic fibrosis10.1
34hemoglobin c disease10.1
35cholelithiasis10.1
36angioid streaks10.1
37migraine10.1
38osteomyelitis10.1
39autosomal dominant methemoglobinemia10.1
40histiocytosis-lymphadenopathy plus syndrome10.0HBA2, HBB
41refractory anemia10.0EPO, ALAS2
42erythrocytosis10.0HBB, EPO
43pancytopenia10.0EPO, HP
44lymphangioma10.0HBA2, HBA1, PECAM1
45hemangioma10.0HBA2, HBA1, PECAM1
46microcytic anemia10.0HBA2, EPO, ALAS2
47primary hyperoxaluria10.0HP, HBA2, HAMP
48polycystic kidney disease10.0EPO, HBA2
49congenital heart disease10.0HP, HBA2, HBA1
50thrombocytosis10.0HP, EPO

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hemoglobinopathy

Drug clinical trials:

Search ClinicalTrials for Hemoglobinopathy

Search NIH Clinical Center for Hemoglobinopathy

Search CenterWatch for Hemoglobinopathy

Genetic Tests for Hemoglobinopathy

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Sources:
23GTR
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Genetic tests related to Hemoglobinopathy:

id Genetic test Affiliating Genes
1 Hemoglobinopathy23

Anatomical Context for Hemoglobinopathy

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34MalaCards
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MalaCards organs/tissues related to Hemoglobinopathy:

34
Bone, Bone marrow, Testes, Heart, Lung, Spleen, Skeletal muscle, Kidney

Animal Models for Hemoglobinopathy or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Hemoglobinopathy:

38
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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53PubMed
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Articles related to Hemoglobinopathy:

(show top 50)    (show all 282)
idTitleAuthorsYear
1
Hemoglobin SO-Arab and I+-thalassemia diagnosed in an adult: A case-based review of the hemoglobinopathies. (23221516)
2013
2
Hemoglobinopathy carrier prevalence in the United Arab Emirates: first analysis of the Dubai Health Authority premarital screening program results. (23647352)
2013
3
Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China. (23383304)
2013
4
Asthma and hemoglobinopathy: when is supplemental oxygen required? (24134768)
2013
5
Factors that influence parents' experiences with results disclosure after newborn screening identifies genetic carrier status for cystic fibrosis or sickle cell hemoglobinopathy. (22240007)
2013
6
KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in I^-hemoglobinopathy patients. (23057549)
2012
7
I^-Thalassemia mutations and hemoglobinopathies in Adana, Turkey: results from a single center study. (22851993)
2012
8
Challenges in hemoglobinopathy testing. (22452159)
2012
9
A silent composite hemoglobinopathy characterized by gene sequencing. (23461145)
2011
10
Transition of chronically ill youth to adult health care: experience of youth with hemoglobinopathy. (21867855)
2011
11
A novel sickling hemoglobinopathy. (22010933)
2011
12
Incomplete follow-up of hemoglobinopathy carriers identified by newborn screening despite reporting in electronic medical records. (22364053)
2011
13
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
14
Diagnosis of hemoglobinopathies in newborns in Venezuela hospitals]. (19775947)
2009
15
Evolution of hemoglobinopathy prevention in Africa: results, problems and prospect. (21415987)
2009
16
Newborn screening for non-sickling hemoglobinopathies. (20008178)
2009
17
Nutritional deficiencies in iron overloaded patients with hemoglobinopathies. (19415722)
2009
18
Target cells and hemoglobinopathy. (18763357)
2008
19
Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country. (17301974)
2007
20
Hemoglobinopathy control program in Turkey. (16612063)
2006
21
Screening for thalassemia and hemoglobinopathy in a rural area of Thailand: a preliminary study. (16862674)
2005
22
Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies. (16138310)
2005
23
Hemoglobinopathy and pattern of musculoskeletal infection in children. (14977282)
2004
24
Hemoglobinopathies and other congenital hemolytic anemia. (15567909)
2004
25
The affinity of hemoglobin for oxygen affects ventilatory responses in mutant mice with Presbyterian hemoglobinopathy. (12829441)
2003
26
Model mice for Presbyterian hemoglobinopathy (Asn(beta108)-->Lys) confer hemolytic anemia with altered oxygen affinity and instability of Hb. (12127975)
2002
27
Allogeneic bone marrow transplantation in a child with hemoglobinopathy olmsted. (12142796)
2002
28
Prevention of hemoglobinopathies in non-endemic countries]. (11475037)
2001
29
Proficiency testing of hemoglobinopathy techniques in Ontario laboratories. (9128270)
1997
30
Tissue oxygenation in patients with hemoglobinopathy H. (9211537)
1997
31
Accuracy of neurologic examination and history in detecting evidence of MRI-diagnosed cerebral infarctions in children with sickle cell hemoglobinopathy. (7782614)
1995
32
Pseudoparaproteinemia due to hemoglobinopathy. (7656447)
1995
33
Total hip arthroplasty in sickle cell hemoglobinopathy. (8358906)
1993
34
Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain. (17587043)
1992
35
Prenatal hemoglobinopathy screening. (1608146)
1992
36
Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. (1561006)
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
Red cell exchange in the pregnancy complicated by a major hemoglobinopathy. (7424983)
1980
42
Radiologic manifestations of sickle cell hemoglobinopathy. (141531)
1977
43
Sickle hemoglobinopathy and Edwardsiella tarda meningitis. (4415769)
1974
44
Retinopathy in hemoglobin C trait (AC hemoglobinopathy). (4819450)
1974
45
Imbalance in alpha and beta globin synthesis associated with a hemoglobinopathy. (4430724)
1974
46
Angioid streaks in sickle cell trait hemoglobinopathy. (4819449)
1974
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobinopathy

Search GEO for disease gene expression data for Hemoglobinopathy.

Pathways for genes affiliated with Hemoglobinopathy

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome
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Compounds for genes affiliated with Hemoglobinopathy

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 52PharmGKB
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Compounds related to Hemoglobinopathy according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
15-aminolevulinic acid46 2510.8HBB, ALAS2
2zinc protoporphyrin469.8EPO, HP
3hind iii469.7HP, HBB
4succinylacetone469.7EPO, HBB
5cellulose acetate469.7HP, HBA2
6vitamin b6469.7EPO, ALAS2
7hmba469.6HBB, HBA2
8protoporphyrin ix46 25 1211.6EPO, HP, ALAS2
9deferoxamine46 1210.4EPO, HP
10sialic acid469.4PECAM1, EPO, HP
11iron dextran46 1210.4HBA1, HBB, EPO
12heme30 25 1211.4ALAS2, HBB, HBA1, HBD
13benzidine469.4HP, EPO, HBB
14hydroxyurea46 52 1211.3HBA2, HBB, EPO
15butyrate469.0HBA2, HBB, EPO, ALAS2
16aspartate468.9HBB, EPO, HP, ALAS2
1723-diphosphoglycerate468.9HBA2, HBB, EPO, HP
18thymidine46 259.8EPO, HBB, HBA2, PECAM1
19alanine468.8ALAS2, HP, HBB, HBA2
20methionine468.8HP, HBB, HBA2
21atp46 309.7PECAM1, HBA2, HBB, HP, ALAS2
22oxygen46 258.8HAMP, PECAM1, HBD, HBA1, HBA2, HBB
23iron46 258.8HFE2, HAMP, HBA1, HBA2, HBB, EPO

GO Terms for genes affiliated with Hemoglobinopathy

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17Gene Ontology
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Cellular components related to Hemoglobinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:0058339.3HBD, HBA2, HBB
2haptoglobin-hemoglobin complexGO:0318389.2HP, HBB, HBA2
3endocytic vesicle lumenGO:0716829.1HP, HBB, HBA2
4blood microparticleGO:0725628.7HBD, HBA2, HBB, HP
5extracellular regionGO:0055768.0HAMP, HBA2, HBB, EPO, HP
6extracellular vesicular exosomeGO:0700627.9HP, HBB, HBA2, HBS1L, PECAM1

Biological processes related to Hemoglobinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:0425419.7EPO, ALAS2
2bicarbonate transportGO:0157019.5HBB, HBA2
3oxygen transportGO:0156719.4HBB, HBA2
4positive regulation of cell deathGO:0109429.2HP, HBB, HBA2
5hydrogen peroxide catabolic processGO:0427449.2HBB, HBA2
6response to hydrogen peroxideGO:0425429.2HP, HBB, HBA2

Molecular functions related to Hemoglobinopathy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:0317209.6HBA2, HBB
2hemoglobin bindingGO:0304929.6HP, HBB
3oxygen transporter activityGO:0053449.4HBB, HBA2, HBD
4oxygen bindingGO:0198259.4HBB, HBA2, HBD
5heme bindingGO:0200379.2HBB, HBA2, HBD
6peroxidase activityGO:0046019.2HBB, HBA2
7iron ion bindingGO:0055069.1HBD, HBA2, HBB
8protein bindingGO:0055157.1HBA2, HBB, EPO, SAMHD1, HP, ALAS2

Products for genes affiliated with Hemoglobinopathy

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Sources for Hemoglobinopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet