MCID: HMG005
MIFTS: 53

Hemoglobinopathy malady

Blood diseases category

Summaries for Hemoglobinopathy

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 sickle cell disease. An important gene associated with Hemoglobinopathy is G6PD (glucose-6-phosphate dehydrogenase), and among its related pathways are Malaria and HIF-1 signaling pathway. The compounds recormon and ferric gluconate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related mouse phenotypes are integument and renal/urinary system.

Aliases & Classifications for Hemoglobinopathy

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8Disease Ontology, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH
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Classifications:

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


Aliases & Descriptions:

hemoglobinopathy 8 22 10
hemoglobinopathies 8 44 60


External Ids:

Disease Ontology8 DOID:2860
NCIt39 C3092
MeSH34 D006453

Related Diseases for Hemoglobinopathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hemoglobinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 154)
idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia30.4TF, TFRC, HFE, HBA2, HBB
2sickle cell disease30.3ALAS2, HP, HBB, HBG1, HBA2, HBD
3alpha thalassemia30.2HBB, HBG1, HBA2, HFE, G6PD
4hereditary persistence of fetal hemoglobin30.0KLF1
5sickle cell anemia30.0G6PD, HBG1, HBB, HP
6cystic fibrosis30.0HP, HBB, BTD
7iron deficiency anemia30.0G6PD, TF, TFRC, HFE, EPO
8malaria30.0G6PD, TFRC, HBA2, HBB, HP, PECAM1
9hemolytic anemia30.0HP, HBB, HBA2, EPO, HFE, TFRC
10deficiency anemia30.0ALAS2, KLF1, HP, HBE1, HBB, HBG1
11methemoglobinemia29.8HP, G6PD
12ischemia29.8PECAM1, HP
13hypochromic microcytic anemia29.8TF, HBB
14congenital hemolytic anemia29.8G6PD, TF, HP
15plasmodium falciparum malaria29.8G6PD, HBB, HP
16polycythemia29.8G6PD, TFRC, EPO, HBA2, HBB
17galactosemia29.8G6PD, TF, HFE, BTD, HP
18diabetes mellitus29.8G6PD, TF, HFE, HBA2, HP, PECAM1
19microcytic anemia29.8G6PD, TF, TFRC, EPO, HBA2, ALAS2
20thalassemia10.6
21hypertension10.3
22gaucher's disease10.1
23meningitis10.1
24thalassemia, hispanic gamma-delta-beta10.1
25hemoglobin c disease10.0
26angioid streaks10.0
27cholelithiasis10.0
28migraine10.0
29osteomyelitis10.0
30autosomal dominant methemoglobinemia10.0
31pyruvate kinase deficiency10.0G6PD
32thromboembolism10.0G6PD
33iron metabolism disease10.0HFE
34hypothyroidism10.0BTD
35peritonitis10.0PECAM1
36diabetic retinopathy10.0HBA2
37neonatal jaundice10.0G6PD
38fetal hemoglobin quantitative trait locus 110.0HBG1
39blackwater fever10.0G6PD
40hydrops fetalis10.0HBB, HBA2
41glomerulonephritis10.0PECAM1
42atransferrinemia10.0TF
43congenital hypothyroidism10.0BTD, G6PD
44hemoglobinuria10.0HP, G6PD
45viral hepatitis10.0HFE, G6PD
46klinefelter's syndrome10.0HBB
47hfe-associated hereditary hemochromatosis10.0HFE
48tuberculosis10.0HP, HBB
49acute myocardial infarction10.0PECAM1, TFRC
50hypogonadism10.0HFE, TF

Graphical network of the top 20 diseases related to Hemoglobinopathy:



Diseases related to hemoglobinopathy

Clinical Features for Hemoglobinopathy

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Drugs & Therapeutics for Hemoglobinopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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:
22GTR
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Genetic tests related to Hemoglobinopathy:

id Genetic test Affiliating Genes
1 Hemoglobinopathy22

Anatomical Context for Hemoglobinopathy

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32MalaCards
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MalaCards organs/tissues related to Hemoglobinopathy:

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

Animal Models for Hemoglobinopathy or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Hemoglobinopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001077110.2KLF1, HFE2, HBB
2MP:00053679.6KLF1, HFE2, BTD, HBB, HP, PECAM1
3MP:00053859.6TFRC, HFE2, EPO, HBB, HP, PECAM1
4MP:00053709.6KLF1, TFRC, HFE, HFE2, EPO, HBB
5MP:00053879.1KLF1, HAMP, TFRC, HFE, HFE2, HBB
6MP:00053979.1ALAS2, KLF1, HAMP, G6PD, TF, TFRC
7MP:00107689.1TFRC, TF, G6PD, HAMP, KLF1, HFE
8MP:00053768.9HFE, TFRC, TF, G6PD, HAMP, KLF1

Publications for Hemoglobinopathy

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Sources:
50PubMed
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Articles related to Hemoglobinopathy:

(show top 50)    (show all 290)
idTitleAuthorsYear
1
KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in I^-hemoglobinopathy patients. (23057549)
2012
2
Hemoglobinopathy Learning Collaborative: using quality improvement (QI) to achieve equity in health care quality, coordination, and outcomes for sickle cell disease. (22864486)
2012
3
Premarital hemoglobinopathy screening in Kayseri: a city in Middle Anatolia region of Turkey. (22246155)
2012
4
High-resolution HbA(1c) separation and hemoglobinopathy detection with capillary electrophoresis. (22912363)
2012
5
Incomplete follow-up of hemoglobinopathy carriers identified by newborn screening despite reporting in electronic medical records. (22364053)
2011
6
Molecular characterization of a discrete hemoglobinopathy upon investigation for a lung hydatic cyst in an old Tunisian patient. (21659055)
2011
7
Efficient correction of hemoglobinopathy-causing mutations by homologous recombination in integration-free patient iPSCs. (22105484)
2011
8
Diagnostic Dilemma of HbA1c Detection in Presence of a Hemoglobinopathy: A Case Report. (22211024)
2011
9
Ethical implications and practical considerations of ethnically targeted screening for genetic disorders: the case of hemoglobinopathy screening. (21797724)
2011
10
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. (20395516)
2010
11
HPLC studies in hemoglobinopathies. (17699975)
2007
12
Quality of life in children with sickle cell hemoglobinopathy. (16077239)
2005
13
HbSC hemoglobinopathy suspected by chest x-ray and red blood cell morphology. (16502600)
2005
14
Systematic follow-up and case management of the abnormal newborn screen can improve acceptance of genetic counseling for sickle cell or other hemoglobinopathy trait. (15714082)
2005
15
Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy. (15646651)
2004
16
Hemoglobinopathy case finding by pulse oximetry. (14508804)
2003
17
Model mice for Presbyterian hemoglobinopathy (Asn(beta108)-->Lys) confer hemolytic anemia with altered oxygen affinity and instability of Hb. (12127975)
2002
18
Prevention of hemoglobinopathies in non-endemic countries]. (11475037)
2001
19
Successful hydroxyurea treatment of a patient with SD hemoglobinopathy. (9883817)
1999
20
Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening. (10388471)
1999
21
Partial splenectomy in children under 4 years of age with hemoglobinopathy. (9721997)
1998
22
HbOThrace trait, HbOThrace hemoglobinopathy and HbOThrace/Hb beta zero hemoglobinopathy: a retrospective study of 118 cases. (10205993)
1998
23
Resistance to recombinant erythropoietin in a hemodialysis patient with heterozygous hemoglobinopathy J-Meinung. (9159314)
1997
24
Beta-globin haplotypes from blood spots for follow-up of newborn hemoglobinopathy screening. (8980265)
1997
25
Pharmacokinetics of arginine butyrate in patients with hemoglobinopathy. (21781749)
1996
26
A cost-effectiveness evaluation of newborn hemoglobinopathy screening from the perspective of state health care systems. (8855399)
1996
27
Priapism associated with sickle cell hemoglobinopathy in children: long-term effects on potency. (8632602)
1996
28
Neonatal screening of hemoglobinopathies in a population residing in Portugal]. (9005686)
1996
29
Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain. (17587043)
1992
30
Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. (1561006)
1992
31
Intraoperative hypoxemia complicating laparoscopic cholecystectomy in a patient with sickle hemoglobinopathy. (1416142)
1992
32
The recombinant human parvoviruses for gene therapy of hemoglobinopathies. (1366418)
1990
33
Chronic mesangiolytic glomerulopathy in a patient with SC hemoglobinopathy. (2321646)
1990
34
Sickled cells in synovial fluid: clue to unsuspected hemoglobinopathy. (2660294)
1989
35
Hemoglobinopathy screening during early pregnancy. (2717320)
1989
36
Newborn hemoglobinopathy screening in Tennessee--current status. (2796334)
1989
37
Sickle cell E hemoglobinopathy and pregnancy. (3347442)
1988
38
Red cell antibodies in thalassemia hemoglobinopathy patients. (3390554)
1988
39
Silver nitrate irrigation for hematuria from sickle cell hemoglobinopathy. (3586154)
1987
40
Hemoglobin E: an emerging hemoglobinopathy in the United States. (3303920)
1987
41
Uroradiological manifestations of S-hemoglobinopathy. (3659957)
1987
42
Neonatal screening for hemoglobinopathy in North Sardinia. (7308231)
1981
43
Severe Mycoplasma pneumonia and vesicular eruption in SC hemoglobinopathy. (690760)
1978
44
Surgical procedures in children with sickle hemoglobinopathy. (894432)
1977
45
Central depression of mulitple vertebral end-plates: a "pathognomonic" sign of sickle hemoglobinopathy in Gaucher's disease. (409178)
1977
46
Imbalance in alpha and beta globin synthesis associated with a hemoglobinopathy. (4430724)
1974
47
Angioid streaks in sickle cell trait hemoglobinopathy. (4819449)
1974
48
Genetic studies of the Seneca Indians: haptoglobins, transferrins, G-6-PD deficiency, hemoglobinopathy, color blindness, morphological traits and dermatoglyphics. (5301686)
1968
49
Polycythemia associated with a hemoglobinopathy. (5913291)
1966
50
An unusual type of hemoglobinopathy resembling sickle cell-thalassemia disease in a Jamaican family. (13535935)
1958

Genetic Variations for Hemoglobinopathy

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Expression for genes affiliated with Hemoglobinopathy

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1BioGPS, 15Gene 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:
29KEGG, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Hemoglobinopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2PECAM1, HBB, HBA2
210.1EPO, TFRC, TF
310.1TF, TFRC, EPO
410.1TFRC, TF, HAMP
510.0HBE1, HBB, HBG1, HBD
6
Hide members
9.9TF, HBD, HBG1, HBB, HBE1

Compounds for genes affiliated with Hemoglobinopathy

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Hemoglobinopathy according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1recormon4410.6EPO, TF
2ferric gluconate4410.6EPO, TF
3aluminium citrate4410.6TF, TFRC
4porphobilinogen44 11 2412.5HBB, HBG1, TFRC
5deferiprone4410.5TF, TFRC, EPO
6aluminium44 1111.5TF, EPO, TFRC
7gallium4410.5TFRC, TF
8cellulose acetate4410.5G6PD, HBA2, HP
9tocopherol4410.5G6PD, HP, TF
10starch4410.5G6PD, HP, TF
11iron dextran44 1111.5TF, EPO, HBB, TFRC
12succinylacetone4410.5EPO, TF, TFRC, HBB
13iron sucrose4410.5TF, EPO
14azathioprine44 49 2 1113.4G6PD, HBB, HBG1, EPO
15ribavirin44 49 1112.4HP, EPO, TF, G6PD
1623-diphosphoglycerate4410.4EPO, HP, HBB, HBA2, G6PD
17fe2+4410.4TFRC, TF, HFE
18chloroquine44 2 49 28 1114.4TF, G6PD, HP, TFRC
19deferoxamine44 1111.4TF, TFRC, EPO, HP
20polyethylene glycol4410.4HP, TF, G6PD, TFRC
21benzidine4410.4HP, HBB, HBG1, EPO, TFRC
22aclacinomycin4410.4HBG1, TFRC
23hydroxyurea44 49 1112.4HBA2, HBG1, HBB, EPO, TFRC
24vitamin b64410.4EPO, ALAS2, BTD
25zinc protoporphyrin4410.4TFRC, HP, EPO, TF, G6PD
26aspartate4410.4ALAS2, HBB, HFE, TFRC, G6PD
275-aminolevulinic acid44 2411.4ALAS2, HBG1, HFE, TFRC, HBB
28vitamin b124410.4TF, HP, G6PD, TFRC, EPO
29methylcellulose4410.3HBG1, TFRC, EPO
30protoporphyrin ix44 11 2412.3ALAS2, HP, EPO, TFRC, TF
31citrate4410.3HP, TFRC, G6PD, TF
32folate4410.3TFRC, HP, EPO, G6PD, TF
33sialic acid4410.3PECAM1, TF, TFRC, HP, EPO
34artesunate44 4911.3TFRC, G6PD
35butyrate4410.2ALAS2, HBA2, TFRC, EPO, HBG1, HBB
36ascorbic acid44 2411.2EPO, G6PD, TF, TFRC, HP, HFE
37glyceraldehyde 3-phosphate4410.1HBG1, TFRC, HBB, G6PD
38cyclosporin a44 28 5912.1TF, PECAM1, TFRC, EPO, HP
39lactate4410.1G6PD, HP, EPO, TF, TFRC, BTD
40creatinine4410.1EPO, HAMP, TF, TFRC, G6PD, HP
41glutamine4410.1G6PD, TF, TFRC, HBB, ALAS2
42estrogen4410.0G6PD, TF, TFRC, HFE, HBB, HP
43zinc44 2411.0KLF1, HBG1, HBB, ALAS2, HFE, BTD
44alanine4410.0ALAS2, TF, HP, HBB, HBA2, TFRC
45bismuth44 2410.9TFRC, TF
46oxygen44 2410.9HBD, G6PD, HBG1, HBA2, PECAM1, ALAS2
47thymidine44 2410.9HBB, HBA2, PECAM1, EPO, TFRC
48heme28 11 2411.8TF, HFE, HBD, HBM, HBG1, HBQ1
49iron44 2410.6HFE2, EPO, HBA2, TFRC, HBG1, HBB
50tyrosine449.6HBB, HP, TFRC, PECAM1, HBA2, HFE

GO Terms for genes affiliated with Hemoglobinopathy

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16Gene Ontology
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Cellular components related to Hemoglobinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:03183810.3HBA2, HBB, HP
2basal part of cellGO:04517810.2HFE, TF
3endocytic vesicle lumenGO:07168210.2HP, HBB, HBA2
4hemoglobin complexGO:0058339.7HBE1, HBB, HBQ1, HBG1, HBA2, HBM
5extracellular spaceGO:0056159.5HFE2, BTD, EPO, HP, PECAM1, ASIP
6extracellular regionGO:0055769.5HAMP, TF, TFRC, BTD, EPO, HBA2

Biological processes related to Hemoglobinopathy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1erythrocyte maturationGO:04324910.2EPO, G6PD, KLF1
2oxygen transportGO:01567110.2HBA2, HBQ1, HBB
3hemoglobin biosynthetic processGO:04254110.2ALAS2, EPO
4positive regulation of cell deathGO:01094210.2HBA2, HBB, HP
5cellular iron ion homeostasisGO:0068799.9ALAS2, HP, HFE, TFRC, TF, HAMP
6response to hydrogen peroxideGO:0425429.9HP, HBB, HBA2
7blood coagulationGO:0075969.7TF, HBD, HBG1, HBB, HBE1, PECAM1

Molecular functions related to Hemoglobinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin bindingGO:03049210.3HP, HBB
2haptoglobin bindingGO:03172010.0HBB, HBA2
3oxygen transporter activityGO:0053449.7HBE1, HBD, HBM, HBA2, HBG1, HBQ1
4oxygen bindingGO:0198259.7HBD, HBM, HBA2, HBG1, HBQ1, HBB
5heme bindingGO:0200379.6HBD, HBM, HBA2, HBG1, HBQ1, HBB
6iron ion bindingGO:0055069.5HBD, HBM, HBA2, HBG1, HBQ1, HBB

Products for genes affiliated with Hemoglobinopathy

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  • Antibodies
  • Proteins
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet