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 aluminium citrate and ferric gluconate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and bone marrow, 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, Testes, Bone marrow, Lung, Heart, Kidney, Spleen, Skeletal muscle

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
Asthma and hemoglobinopathy: when is supplemental oxygen required? (24134768)
2013
2
Fetal red blood cell parameters in thalassemia and hemoglobinopathies. (24051385)
2013
3
The attitudes and intention to participate in hemoglobinopathy carrier screening in The Netherlands among individuals from Turkish, Moroccan, and Surinamese descent. (24348582)
2013
4
Hemoglobinopathies: slicing the Gordian knot of Plasmodium falciparum malaria pathogenesis. (23696730)
2013
5
Unrelated Donor Allogeneic Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies Using a Reduced-Intensity Conditioning Regimen and Third-Party Mesenchymal Stromal Cells. (24370862)
2013
6
Screening for thalassemia and other hemoglobinopathies in a tertiary care hospital of West Bengal: implications for population screening. (23354142)
2012
7
Factors influencing outcome and incidence of late complications in children who underwent allogeneic hematopoietic stem cell transplantation for hemoglobinopathy. (23020512)
2012
8
Transfusion-induced hemoglobinopathy in patients of beta-thalassemia major. (21934236)
2011
9
ThalInd, a I^-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resource. (21520336)
2011
10
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
11
Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates. (20353348)
2010
12
Renal medullary-like carcinoma in an adult without sickle cell hemoglobinopathy. (20145663)
2010
13
Newborn screening for non-sickling hemoglobinopathies. (20008178)
2009
14
Target cells and hemoglobinopathy. (18763357)
2008
15
Rapid diagnosis of thalassemias and other hemoglobinopathies by capillary electrophoresis system. (18940720)
2008
16
Successful full-term twin pregnancy in hemoglobin Brockton: a rare hemoglobinopathy--case report. (17356285)
2007
17
Variable efficacy of recombinant human erythropoietin in anemic pregnant women with different forms of heterozygous hemoglobinopathy. (17119327)
2006
18
Evaluation of coverage by a neonatal screening program for hemoglobinopathies in the RecA'ncavo region of Bahia, Brazil]. (17096035)
2006
19
Hemoglobinopathy and pattern of musculoskeletal infection in children. (14977282)
2004
20
Interpretation of fetal hemoglobin only on newborn screening for hemoglobinopathy. (12218602)
2002
21
Laboratory investigation of hemoglobinopathies and thalassemias: review and update. (10926923)
2000
22
Changes of hemostatic factors in patients with hemoglobinopathies. (10770092)
1999
23
Diagnosis of acute bone/bone marrow infarction of the mandible in sickle hemoglobinopathy. Report of a case. (8734700)
1996
24
Ototoxicity in hemoglobinopathy patients chelated with desferrioxamine. (8556369)
1996
25
Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies. (8811313)
1996
26
Pitfalls in newborn hemoglobinopathy screening: failure to detect beta(+)-thalassemia. (7636661)
1995
27
Pregnancy complicated by sickle hemoglobinopathy. (8612359)
1995
28
Advances in the prenatal and molecular diagnosis of the hemoglobinopathies and thalassemias. (8537229)
1995
29
Potential alternatives to erythrocyte transfusion in hemoglobinopathies: hydroxyurea (HU), erythropoietin (EPO), butyrate derivatives, blood substitutes]. (8186851)
1994
30
Is universal neonatal hemoglobinopathy screening cost-effective? (8180635)
1994
31
Comparison of liquid and dried blood for neonatal hemoglobinopathy screening: laboratory and programmatic issues. (8115202)
1994
32
Total hip arthroplasty in sickle cell hemoglobinopathy. (8358906)
1993
33
Prenatal hemoglobinopathy screening. (1608146)
1992
34
Hydrops fetalis due to Bart hemoglobinopathy at Ramathibodi Hospital (1978-1987): a 10-year review. (2351917)
1990
35
Value of screening umbilical cord blood for hemoglobinopathy. (2717309)
1989
36
Combined bone marrow and gallium imaging. Differentiation of osteomyelitis and infarction in sickle hemoglobinopathy. (3165313)
1988
37
Hemoglobin E: a common hemoglobinopathy among children of Southeast Asian origin. (3594333)
1987
38
Prenatal hemoglobinopathy screening: receptivity of Southeast Asian refugees. (3452370)
1987
39
Hydrops fetalis secondary to Bart hemoglobinopathy. (3945425)
1986
40
The delta beta crossover region in Lepore boston hemoglobinopathy is restricted to a 59 base pairs region around the 5' splice junction of the large globin gene intervening sequence. (6305443)
1983
41
Hemoglobinopathies in Japan. (7275668)
1981
42
Routine screening for hemoglobinopathy in blacks. (431140)
1979
43
Hemoglobinopathy as a cause of unilateral hematuria. (423611)
1979
44
Pneumococcal meningitis in patients with a major sickle hemoglobinopathy. (619087)
1978
45
Lepore hemoglobinopathy in Yugoslavia. (756532)
1978
46
Vertebral end-plate depression: report of two patients without hemoglobinopathy. (403787)
1977
47
Pyogenic infections in children with sickle hemoglobinopathy. (830884)
1977
48
Thalassemia hemoglobinopathy. Report of two cases. (5519307)
1970
49
Sickle cell hemoglobinopathy in children. (5711418)
1968
50
Hemoglobin "pylos": study of a hemoglobinopathy resembling thalassemia in the heterozygous, homozygous and double heterozygous state. (13892631)
1962

Genetic Variations for Hemoglobinopathy

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Expression for genes affiliated with Hemoglobinopathy

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Sources:
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
1aluminium citrate4410.6TF, TFRC
2ferric gluconate4410.6TF, EPO
3recormon4410.6TF, EPO
4porphobilinogen44 11 2412.5HBB, HBG1, TFRC
5deferiprone4410.5EPO, TFRC, TF
6aluminium44 1111.5EPO, TFRC, TF
7gallium4410.5TF, TFRC
8cellulose acetate4410.5G6PD, HBA2, HP
9tocopherol4410.5HP, TF, G6PD
10starch4410.5G6PD, TF, HP
11iron dextran44 1111.5HBB, EPO, TFRC, TF
12succinylacetone4410.5TF, TFRC, EPO, HBB
13iron sucrose4410.5TF, EPO
14fe2+4410.4TF, TFRC, HFE
15azathioprine44 49 2 1113.4G6PD, EPO, HBG1, HBB
16ribavirin44 49 1112.4HP, EPO, TF, G6PD
1723-diphosphoglycerate4410.4G6PD, EPO, HBA2, HBB, HP
18chloroquine44 2 49 28 1114.4G6PD, TF, TFRC, HP
19deferoxamine44 1111.4TF, TFRC, EPO, HP
20polyethylene glycol4410.4G6PD, TF, TFRC, HP
21benzidine4410.4HP, HBB, HBG1, EPO, TFRC
22aclacinomycin4410.4TFRC, HBG1
23hydroxyurea44 49 1112.4TFRC, EPO, HBA2, HBG1, HBB
24vitamin b64410.4BTD, EPO, ALAS2
25zinc protoporphyrin4410.4G6PD, TF, TFRC, EPO, HP
26aspartate4410.4G6PD, TFRC, HFE, HBB, ALAS2
275-aminolevulinic acid44 2411.4TFRC, HFE, HBG1, HBB, ALAS2
28vitamin b124410.4G6PD, TF, TFRC, EPO, HP
29methylcellulose4410.3HBG1, EPO, TFRC
30protoporphyrin ix44 11 2412.3TF, TFRC, EPO, HP, ALAS2
31citrate4410.3HP, TFRC, TF, G6PD
32folate4410.3G6PD, TF, TFRC, EPO, HP
33sialic acid4410.3TF, TFRC, EPO, HP, PECAM1
34bismuth44 2411.2TFRC, TF
35butyrate4410.2TFRC, EPO, HBA2, HBG1, HBB, ALAS2
36ascorbic acid44 2411.2G6PD, TF, TFRC, HFE, EPO, HP
37glyceraldehyde 3-phosphate4410.1HBB, HBG1, TFRC, G6PD
38cyclosporin a44 28 5912.1PECAM1, HP, EPO, TFRC, TF
39lactate4410.1G6PD, TF, TFRC, BTD, EPO, HBB
40creatinine4410.1HAMP, G6PD, TF, TFRC, EPO, HP
41glutamine4410.1G6PD, TF, TFRC, HBB, ALAS2
42estrogen4410.0G6PD, TF, TFRC, HFE, HBB, HP
43zinc44 2411.0ALAS2, HBB, HBG1, BTD, HFE, KLF1
44alanine4410.0TF, TFRC, HFE, BTD, HBA2, HBB
45artesunate44 4911.0TFRC, G6PD
46oxygen44 2410.9HAMP, G6PD, EPO, HBD, HBA2, HBG1
47thymidine44 2410.9TFRC, EPO, HBA2, HBB, PECAM1
48heme28 11 2411.8TF, HFE, HBD, HBM, HBG1, HBQ1
49iron44 2410.6ALAS2, HAMP, TF, TFRC, HFE, HFE2
50tyrosine449.6TFRC, HFE, BTD, EPO, HBA2, HBB

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