Summaries for Hemoglobinopathy

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2CDC, 44Wikipedia, 22MalaCards
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Wikipedia: Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin...44 more...

MalaCards: Hemoglobinopathy, also known as hemoglobinopathies, is related to hereditary elliptocytosis and elliptocytosis. An important gene associated with Hemoglobinopathy is G6PD (glucose-6-phosphate dehydrogenase), and among its related pathways are O2/CO2 exchange in erythrocytes and African trypanosomiasis. The compounds citrate and succinylacetone have been mentioned in the context of this disorder. Related mouse phenotypes are liver/biliary system and integument.

CDC:  2

Aliases & Descriptions for Hemoglobinopathy

Sources:
2CDC, 6Disease Ontology, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 24MeSH, 27NCIt
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Aliases & Descriptions:

hemoglobinopathy 6 8
hemoglobinopathies 6 32 43

External Ids:

NCIt27 C3092

Related Diseases for Hemoglobinopathy

Sources:
13GeneCards, 14GeneDecks
See all sources

Diseases related to hemoglobinopathy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 262)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis28.5HP, G6PD, SLC4A1
2elliptocytosis28.5HP, G6PD, SLC4A1
3alpha thalassemia27.7UGT1A1, G6PD, HBA1, HBA2, HBB, HBG1
4iron overload27.4UGT1A1, ALAS2, HBA2, HBB, HFE, HFE2
5polycythemia25.3VWF, GP1BA, G6PD, HBA1, HBA2, HBB
6sickle cell disease23.2KLF1, VWF, BTD, BCL11A, UGT1A1, GP1BA
7thalassemia22.7KLF1, VWF, BLM, BCL11A, SCN2A, UGT1A1
8malaria19.6VWF, BLM, SAMHD1, GP1BA, ALAS2, HSPG2
9hemoglobin constant spring13.8HBA2, HBB
10hereditary spherocytosis13.7G6PD, HBA2, HBB
11neonatal anemia13.7HBA2, EPO
12hemoglobinemia13.7HP, HBB
13thalassemia, delta-13.7HBB, HBD
14bantu siderosis13.7HFE, TF
15blackwater fever13.7HP, G6PD
16fetal erythroblastosis13.7G6PD, HBB, EPO
17phenylketonuria13.7BTD, G6PD, HBB
18heinz body anemia13.7HBA1, HBA2, HBB
19congenital hemolytic anemia13.6HP, G6PD, TF
20ivemark syndrome13.6HBA1, HBA2, HBB
21monogenic disease13.6HBA1, HBA2, HBB
22erythremia13.6HBA1, HBB, EPO
23favism13.6HP, G6PD, HBA1
24iron metabolism disease13.6HFE, TF, TFRC
25plasmodium falciparum malaria13.6HP, G6PD, HBB
26hfe-associated hereditary hemochromatosis13.6HFE, HFE2
27fetal hemoglobin quantitative trait locus 113.6HBG1, HBG2
28atransferrinemia13.6HFE2, TF
29hemochromatosis type 213.6HFE2, HAMP
30galactosemia13.6BTD, G6PD, TF
31lymphangioma13.6HBA1, HBA2, PECAM1
32hypochromic microcytic anemia13.5HBA2, TF
33splenomegaly13.5HP, HBA2, HBB, EPO
34congenital disorder of glycosylation type i13.5HP, TF
35diamond-blackfan anemia13.5HBB, HBE1
36pure red-cell aplasia13.5HP, TF, EPO
37macrocytic anemia13.5ALAS2, TF
38epithelioid sarcoma13.5HBA1, HBA2, PECAM1
39pyruvate kinase deficiency13.4G6PD, HBA2, HFE, TF, EPO
40hpfh13.4KLF1, HBB, HBG1, HBG2
41nonalcoholic steatohepatitis13.4HBA1, HBB, HFE, TF
42nutritional deficiency disease13.4HFE2, TFRC, HAMP, EPO
43aceruloplasminemia13.3TF, CP
44autonomic neuropathy13.3HBA1, HBA2, EPO
45neonatal jaundice13.3BTD, UGT1A1, HP, G6PD
46hypochromic anemia13.3ALAS2, HBA1, HBB, TF, TFRC
47acquired immunodeficiency syndrome13.3HP, TF, TFRC, EPO
48methemoglobinemia13.3HP, G6PD, HBA1, HBB, HBG2
49hydrops fetalis13.3G6PD, HBA1, HBA2, HBB, HBE1, EPO
50beta thalassemia13.2UGT1A1, G6PD, HBA2, HBB, EPO

Graphical network of the top 20 diseases related to hemoglobinopathy:



Graphical network of diseases related to hemoglobinopathy

Clinical Features for Hemoglobinopathy

Drugs & Therapeutics for Hemoglobinopathy

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-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

Anatomical Context for Hemoglobinopathy

Phenotypes for genes affiliated with Hemoglobinopathy

Sources:
25MGI
See all sources

MGI Mouse Phenotypes related to hemoglobinopathy:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1liver/biliary system phenotypeMP:00053709.0EPO, HFE2, HBB, HSPG2, ASIP, KLF1
2integument phenotypeMP:00107718.7SLC4A1, HFE2, HBB, HBA2, ALAS2, ASIP
3hematopoietic system phenotypeMP:00053978.5KLF1, EPO, HAMP, TFRC, HFE2, ALAS2
4renal/urinary system phenotypeMP:00053678.5PECAM1, SLC4A1, THBD, HFE2, HBB, HP
5immune system phenotypeMP:00053877.2HAMP, PECAM1, SLC4A1, TFRC, HFE2, HFE
6growth/size phenotypeMP:00053786.6HDAC9, SLC12A2, SLC4A1, TFRC, THBD, HFE
7cellular phenotypeMP:00053845.7THBD, TFRC, SLC4A1, CP, PECAM1, EPO
8cardiovascular system phenotypeMP:00053855.6TFRC, SLC4A1, SLC12A2, CP, PECAM1, HDAC9
9homeostasis/metabolism phenotypeMP:00053765.4HFE, HFE2, THBD, TF, TFRC, SLC4A1
10mortality/agingMP:00107685.1HFE, HFE2, THBD, TF, TFRC, SLC4A1

Publications for genes affiliated with Hemoglobinopathy

Sources:
35PubMed
See all sources

Articles related to hemoglobinopathy:

(show all 50)
idTitleAuthorsYearAffiliating Genes
1The effect of UGT1A1 promoter polymorphism on bilirub in response to hydroxyurea therapy in hemoglobinopathies. (20709051)Italia K.Y.... Colah R.B.2010UGT1A1
2Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. (20395516)Chan O.T.... Schrijver I.2010HBB
3Hemoglobinopathies in North Africa: a review. (20113284)Haj Khelil A.... Perrin P.2010HBB
4Diagnosis of hemoglobinopathies in newborns in Venez uela hospitals. (19775947)GimAcnez O.G.... Arends de PAcrez A.2009HBB
5Newborn screening for non-sickling hemoglobinopathies . (20008178)Hoppe C.C.2009HBA2
6Nutritional deficiencies in iron overloaded patients with hemoglobinopathies. (19415722)Claster S.... Coates T.D.2009CP
7Non-cancer uses of histone deacetylase inhibitors: effects on infectious diseases and beta-hemoglobinopathies. (19355991)Rotili D.... Mai A.2009HDAC9
8BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies. (18691915)Sedgewick A.E.... Chui D.H.2008BCL11A
9Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. (18266205)Khositseth S.... Yenchitsomanus P.T.2008SLC4A1
10Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in the sub-Saharan immigrant population of the Center and South Maresme region, Catalonia, Spain. (18582416)Heras Manso G.L.... Gil Garcia M.2008G6PD
11Fetal globin stimulant therapies in the beta-hemoglobinopathies: principles and current potential. (18543545)Perrine S.P.2008EPO
12Hematological profile of twenty-nine tribal compound cases of hemoglobinopathies and G-6-PD deficiency in rural Orissa. (18923215)Balgir R.S.2008G6PD
13Pharmacogenomics and therapeutics of hemoglobinopathi es. (18275000)Patrinos G.P.... Grosveld F.G.2008HBB
14Stem cell engineering for the treatment of severe hemoglobinopathies. (18991654)Sadelain M.... Riviere I.2008HBB
15HPLC studies in hemoglobinopathies. (17699975)Colah R.B.... Gorakshakar A.C.2007HBG1
16Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency (17669331)Manu Pereira M.d.e.l. . . . . . . . . . . .M.... Vives Corrons J.L.2007G6PD
17Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country. (17301974)Samara M.... Kollia P.2007HBB
18Variable efficacy of recombinant human erythropoietin in anemic pregnant women with different forms of heterozygous hemoglobinopathy. (17119327)Bencaiova G.... Breymann C.2006EPO
19Evaluation of coverage by a neonatal screening program for hemoglobinopathies in the Reconcavo region of Bahia, Brazil (17096035)Silva W.d.o.s. .S.... Grisolia C.K.2006HBB
20Neonatal screening of hemoglobinopathies and glucose-6-phosphate dehydrogenase in Catalonia. Pilot study in anonymous not related population (16527153)MaA+A_-Pereira M.d.e.l. .M.... Vives-Corrons J.L.2006G6PD
21Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil. (15692663)Adorno E.V.... Goncalves M.S.2005HBB
22Molecular diagnosis of inherited disorders: lessons f rom hemoglobinopathies. (16138310)Patrinos G.P.... Papadakis M.N.2005HBQ1
23Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene. (15885606)Barton J.C.... Beutler E.2005ALAS2, HFE2, HAMP
24Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. (15757247)Dash S.2004G6PD
25Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency. (16868367)Nasserullah Z.... Wabel M.A.2003G6PD
26Hb Siam [alpha15(A13)Gly-->Arg (alpha1) (GGT-->CGT)] is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect. (11939517)Turbpaiboon C.... Svasti J.2002HBA1
27Triple heterozygosity of a hemoglobin variant: hemoglobin Pyrgos with other hemoglobinopathies. (11843288)Jetsrisuparb A.... Komwilaisak P.2002HBB
28Development of virus vectors for gene therapy of beta chain hemoglobinopathies: flanking with a chromatin insulator reduces gamma-globin gene silencing in vivo. (12200360)Emery D.W.... Stamatoyannopoulos G.2002HBG1
29Prevention of hemoglobinopathies in non-endemic countries (11475037)Badens C.2001HBB
30Detection of ICAM-1, ICAM-2, ICAM-3, PECAM-1 and VCAM-1, evaluation of hypercoagulable state and platelet aggregation in hemoglobinopathy patients with erythroblasts. (11454542)Garozzo G.... Bonomo P.2001PECAM1
31Laboratory investigation of hemoglobinopathies and thalassemias: review and update. (10926923)Clarke G.M.... Higgins T.N.2000HBB
32An in vitro system for efficiently evaluating gene therapy approaches to hemoglobinopathies. (10694798)Howrey R.P.... Smith C.2000HBB
33Transfusion in patients with hemoglobinopathies (11204841)de Montalembert M.2000HBB, HBA2
34Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies. (11042028)Traeger-Synodinos J.... Kanavakis E.2000HBA2, ASIP
35Changes of hemostatic factors in patients with hemoglobinopathies. (10770092)Oner A.F.... Altay C.1999VWF, THBD
36An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant. (9629496)Traeger-Synodinos J.... Kattamis C.1998HBA2
37Resistance to recombinant erythropoietin in a hemodialysis patient with heterozygous hemoglobinopathy J-Meinung. (9159314)Tarng D.C.... Huang T.P.1997EPO, HP
38Beta-globin haplotypes from blood spots for follow-up of newborn hemoglobinopathy screening. (8980265)Hiti A.L.... Powars D.R.1997HBB
39Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies. (8811313)Ho P.J.... Thein S.L.1996HBB, HBA2
40Neonatal screening of hemoglobinopathies in a population residing in Portugal (9005686)Peres M.J.... Martins M.C.1996HBA2
41Advances in the prenatal and molecular diagnosis of the hemoglobinopathies and thalassemias. (8537229)Embury S.H.1995HBB
42Potential alternatives to erythrocyte transfusion in hemoglobinopathies: hydroxyurea (HU), erythropoietin (EPO), butyrate derivatives, blood substitutes (8186851)Bachir D.... Galacteros F.1994EPO
43Prevalences of thalassemia/hemoglobinopathies and G-6-PD deficiency in malaria patients. (7964225)Insiripong S.... Amatachaya C.1993G6PD
44Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain. (17587043)Mohammed A.M.... Bapat J.P.1992G6PD
45Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a nove l unstable thalassemic hemoglobinopathy. (1985702)Podda A.... Cao A.1991HBB, HBA2
46Prenatal diagnosis of thalassemia and hemoglobinopathies in Switzerland. (2009949)Beris P.... Miescher P.1991HBB
47The recombinant human parvoviruses for gene therapy of hemoglobinopathies. (1366418)Dixit M.... Ohi S.1990HBB
48Hemoglobinopathies in Japan. (7275668)Shibata S.1981HBA1
49Polycythemia associated with a hemoglobinopathy. (5913291)Charache S.... Clegg J.B.1966HBA1
50Hemoglobin 'pylos': study of a hemoglobinopathy resembling thalassemia in the heterozygous, homozygous and double heterozygous state. (13892631)Fessas P.... Karaklis A.1962HBD

Expression for genes affiliated with Hemoglobinopathy

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Hemoglobinopathy

Pathways for genes affiliated with Hemoglobinopathy

Sources:
38Reactome, 20KEGG, 37R&D Systems
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Compounds for genes affiliated with Hemoglobinopathy

Sources:
32Novoseek , 9DrugBank, 18HMDB, 34PharmGKB
See all sources

Compounds related to hemoglobinopathy according to GeneDecks:

(show top 50)    (show all 140)
idCompoundScoreTop Affiliating Genes
1citrate32 10.4HP, TFRC, SLC4A1
2succinylacetone32 10.3TF, EPO, TFRC, HBB
3deferiprone32 10.3TFRC, EPO, TF
4zinc protoporphyrin32 10.2EPO, TFRC, TF, G6PD, HP
5sialic acid32 10.2TFRC, PECAM1, EPO, HP
6iron dextran32 9 9 12.2TFRC, EPO, TF, HBB, HBA1
75-aminolevulinic acid32 18 11.2ALAS2, HBB, HBG1, HFE, TFRC
8protoporphyrin ix32 9 18 9 13.1EPO, TFRC, HP, ALAS2, TF
9benzidine32 10.0UGT1A1, HBB, HBG1, TFRC, EPO, HP
1023-diphosphoglycerate32 9.9G6PD, HBA2, HP, HBB, HBG2, EPO
11aspartate32 9.9HP, HBB, THBD, ALAS2, HFE
12tocopherol32 9.7HP, G6PD, TF, CP, HBG2
13fenton32 9.6TF, EPO, CP, HBG2
14fe2+32 9.6CP, TFRC, TF, HFE, HBG2
15polyethylene glycol32 9.5TF, THBD, HBG2, G6PD, TFRC, HP
16deferoxamine32 9 9 11.5CP, HP, HBG2, TF, TFRC, EPO
17carbohydrates32 9.5CP, TFRC, TF, THBD
18fe3+32 9.5TFRC, CP, TF, HBG2
19malondialdehyde32 9.4EPO, CP, HBG2, HP, G6PD
20chloroquine32 34 9 9 12.4HP, G6PD, TF, TFRC, HDAC9
21azathioprine32 34 9 9 12.4EPO, G6PD, HBB, HBG1, THBD, HDAC9
22ascorbic acid32 18 10.4G6PD, TF, TFRC, HSPG2, HFE, EPO
23vitamin b1232 9.2EPO, CP, TFRC, TF, G6PD, VWF
24butyrate32 9.1ALAS2, HBA2, HBB, HBG1, HDAC9, EPO
25glutamate32 9.1HBB, SLC4A1, SLC12A2, CP, HDAC9
26Heme9 18 9 10.9HFE, HBQ1, HBM, HBG2, HBG1, HBE1
27sodium nitroprusside32 8.9TF, TFRC, CP, G6PD, VWF, HBG2
28betacarotene32 8.9VWF, TF, CP, THBD, TFRC
29thyroxine32 18 9.7VWF, UGT1A1, TF, THBD, HP, G6PD
30epinephrine32 9 18 9 11.6CP, TF, HBG2, G6PD, HP, GP1BA
31hydroxyurea32 9 9 10.6HBA2, HDAC9, EPO, HBG2, HBG1, TFRC
32nitric oxide32 9 18 9 11.6HBG1, HP, PECAM1, HBB, SLC4A1, THBD
33n-ethylmaleimide32 9 9 10.5G6PD, TFRC, HBG2, HSPG2, VWF, GP1BA
34folate32 8.5CP, THBD, G6PD, HP, EPO, SLC4A1
35cysteine32 8.4HBB, HBG2, TFRC, SLC4A1, HDAC9, BTD
36aspirin32 34 18 10.3HP, G6PD, VWF, GP1BA, HSPG2, THBD
37iron32 18 9.3HFE, HBG1, HBB, HBA2, HBA1, HP
38creatinine32 8.1G6PD, TF, HBG2, EPO, HAMP, CP
39prostacyclin32 8.1PECAM1, TF, THBD, HBG2, HSPG2, GP1BA
40pge132 8.0VWF, HSPG2, THBD, TF, TFRC
41oxygen32 18 8.9HAMP, HBB, HBA2, HBA1, HBG2, SLC12A2
42glutamine32 7.7HDAC9, TFRC, TF, HBB, G6PD, HSPG2
43estrogen32 7.6TF, HBB, HFE, THBD, HDAC9, PECAM1
44atp32 7.2HBA2, HBB, THBD, SLC4A1, SLC12A2, PECAM1
45lactate32 7.1THBD, HBG2, HBB, G6PD, HP, BTD
46h2o232 7.1TFRC, VWF, HP, G6PD, HBB, HSPG2
47vegf32 7.0VWF, HSPG2, HP, THBD, TFRC, TF
48tyrosine32 6.6TFRC, HBB, HDAC9, BTD, EPO, HSPG2
49serine32 6.5HP, HDAC9, PECAM1, CP, TFRC, THBD
50alanine32 5.8THBD, VWF, UGT1A1, HBA2, GP1BA, ALAS2

GO Terms for genes affiliated with Hemoglobinopathy

Sources:
12Gene Ontology
See all sources

Cellular components related to hemoglobinopathy according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:0318389.8HBB, HBA2, HP
2hemoglobin complexGO:0058339.0HBA2, HBB, HBD, HBE1, HBG1, HBG2
3extracellular spaceGO:0056157.9PECAM1, CP, THBD, HFE2, HP, HSPG2

Biological processes related to hemoglobinopathy according to GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:01567110.2HBQ1, HBB, HBA2
2erythrocyte maturationGO:04324910.2KLF1, G6PD, EPO
3hemoglobin biosynthetic processGO:04254110.1ALAS2, EPO
4positive regulation of cell deathGO:01094210.1HP, HBA2, HBB
5bicarbonate transportGO:0157019.9SLC4A1, HBB, HBA2
6response to hydrogen peroxideGO:0425429.8HP, HBA2, HBB
7cellular iron ion homeostasisGO:0068799.2ALAS2, HAMP, CP, TFRC, TF, HFE
8blood coagulationGO:0075968.1PECAM1, TF, THBD, HBG2, HBG1, HBE1

Molecular functions related to hemoglobinopathy according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:03172010.3HBA2, HBB
2oxygen transporter activityGO:0053449.1HBA2, HBQ1, HBM, HBG2, HBG1, HBE1
3oxygen bindingGO:0198259.1HBQ1, HBM, HBG2, HBG1, HBE1, HBD
4heme bindingGO:0200379.0HBQ1, HBM, HBG2, HBG1, HBE1, HBD
5iron ion bindingGO:0055068.8HBQ1, HBM, HBG2, HBG1, HBE1, HBD

Sources for Hemoglobinopathy

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS