MCID: HMG005
MIFTS: 51

Hemoglobinopathy malady

Blood diseases category
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Summaries for Hemoglobinopathy

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Wikipedia:65 Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin... more...

MalaCards based summary: Hemoglobinopathy, also known as hemoglobinopathies, is related to beta thalassemia and hereditary persistence of fetal hemoglobin. 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:
8Disease Ontology, 22GTR, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt
See all sources

Hemoglobinopathy, Aliases & Descriptions:

Name: Hemoglobinopathy 8 22 10
 
Hemoglobinopathies 8 44 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:2860
MeSH34 D006453
NCIt39 C3092

Related Diseases for Hemoglobinopathy

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

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia30.9HBB, HBA2
2hereditary persistence of fetal hemoglobin30.7HBB
3iron deficiency anemia30.6EPO
4heinz body anemia30.5HBA2
5alpha thalassemia30.5HBB, HBA2, HBA1
6hydrops fetalis30.5HBA2, HBB
7methemoglobinemia30.5HP
8polycythemia29.9HBA2, HBB, EPO
9hemolytic anemia29.8HP, EPO, HBB, HBA2
10diabetes mellitus29.8PECAM1, HBA1, HBA2, HP
11sickle cell disease29.7ALAS2, HP, EPO, HBB, HBA2, HBD
12malaria29.7PECAM1, HBA2, HBB, HP
13sickle cell anemia29.1HBS1L, BCL11A, HBB, HBA2, HBA1, HBD
14deficiency anemia28.9HFE2, ALAS2, HP, EPO, HBB, HBA2
15thalassemia10.7
16favism10.4HP
17hemochromatosis type 210.4HFE2, HAMP
18aceruloplasminemia10.4HAMP, HFE2
19hypertension10.3
20pulmonary hypertension10.3
21hemoglobin h disease, nondeletional10.3HBA1, HBA2
22kaposi's sarcoma10.3HBA2, HBA1
23vascular cancer10.3HBA2, HBA1
24epithelioid sarcoma10.3HBA1, HBA2
25capillary hemangioma10.3HBA1, HBA2
26hematopoietic stem cell transplantation10.3
27hemochromatosis10.2HAMP, HP, HFE2
28hemangiopericytoma10.2HBA2, HBA1
29hemoglobinemia10.2HBB, HP
30refractory anemia10.2EPO, ALAS2
31histiocytosis-lymphadenopathy plus syndrome10.2HBA2, HBB
32erythrocytosis10.2HBB, EPO
33pancytopenia10.2EPO, HP
34gaucher's disease10.2
35meningitis10.2
36lymphangioma10.1HBA2, HBA1, PECAM1
37plasmodium falciparum malaria10.1HP, HBB
38hemangioma10.1HBA2, HBA1, PECAM1
39microcytic anemia10.1HBA2, EPO, ALAS2
40primary hyperoxaluria10.1HP, HBA2, HAMP
41polycystic kidney disease10.1EPO, HBA2
42congenital heart disease10.1HP, HBA2, HBA1
43cystic fibrosis10.1
44hemoglobin c disease10.1
45angioid streaks10.1
46cholelithiasis10.1
47migraine10.1
48osteomyelitis10.1
49thalassemia, hispanic gamma-delta-beta10.1
50thrombocytosis10.1HP, 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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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:

32
Bone, Bone marrow, Testes, Heart, Lung, Skeletal muscle, Kidney

Animal Models for Hemoglobinopathy or affiliated genes

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MGI Mouse Phenotypes related to Hemoglobinopathy:

36
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 298)
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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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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Compounds for genes affiliated with Hemoglobinopathy

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 50PharmGKB
See all sources

Compounds related to Hemoglobinopathy according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
15-aminolevulinic acid44 2410.8HBB, ALAS2
2zinc protoporphyrin449.8EPO, HP
3hind iii449.7HP, HBB
4succinylacetone449.7EPO, HBB
5cellulose acetate449.7HP, HBA2
6vitamin b6449.7EPO, ALAS2
7hmba449.6HBB, HBA2
8protoporphyrin ix44 24 1111.6EPO, HP, ALAS2
9deferoxamine44 1110.4EPO, HP
10sialic acid449.4PECAM1, EPO, HP
11iron dextran44 1110.4HBA1, HBB, EPO
12heme28 24 1111.4ALAS2, HBB, HBA1, HBD
13benzidine449.4HP, EPO, HBB
14hydroxyurea44 50 1111.3HBA2, HBB, EPO
15butyrate449.0HBA2, HBB, EPO, ALAS2
16aspartate448.9HBB, EPO, HP, ALAS2
1723-diphosphoglycerate448.9HBA2, HBB, EPO, HP
18thymidine44 249.8EPO, HBB, HBA2, PECAM1
19alanine448.8ALAS2, HP, HBB, HBA2
20methionine448.8HP, HBB, HBA2
21atp44 289.7PECAM1, HBA2, HBB, HP, ALAS2
22oxygen44 248.8HAMP, PECAM1, HBD, HBA1, HBA2, HBB
23iron44 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/GeneDecks:

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

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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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