MCID: HMG005
MIFTS: 47

Hemoglobinopathy malady

Summaries for Hemoglobinopathy

Sources:
3CDC, 64Wikipedia, 33MalaCards
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Wikipedia:64 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 thalassemia and beta thalassemia. 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. Related mouse phenotypes are integument and renal/urinary system.

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Aliases & Classifications for Hemoglobinopathy

Sources:
8Disease Ontology, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH
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Aliases & Descriptions:

hemoglobinopathy 8 22 10
hemoglobinopathies 8 45 61


External Ids:

Disease Ontology8 DOID:2860
NCIt40 C3092
MeSH35 D006453

Related Diseases for Hemoglobinopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia31.0HBG1, HBE1, HBB, HBA2, HBD, EPO
2beta thalassemia30.4TFRC, TF, HFE, HBB, HBA2
3alpha thalassemia30.4G6PD, HFE, HBA2, HBG1, HBB
4sickle cell disease30.4ALAS2, TFRC, TF, G6PD, HP, HBB
5hydrops fetalis30.2HBA2, HBB
6hereditary persistence of fetal hemoglobin30.0KLF1
7sickle cell anemia30.0HP, HBB, G6PD, HBG1
8cystic fibrosis30.0BTD, HBB, HP
9iron deficiency anemia30.0G6PD, HFE, EPO, TF, TFRC
10deficiency anemia30.0HFE, TFRC, TF, G6PD, HAMP, KLF1
11thromboembolism29.8G6PD
12methemoglobinemia29.8G6PD, HP
13hypochromic microcytic anemia29.8TF, HBB
14plasmodium falciparum malaria29.8HP, HBB, G6PD
15hemoglobin d disease10.5
16hemoglobin c disease10.5
17hemoglobin so10.3
18sickle cell - hemoglobin d disease10.3
19sickle cell - hemoglobin c disease10.3
20hemoglobin s beta-thalassemia10.2
21hematopoietic stem cell transplantation10.2
22hemoglobin e disease10.2
23hemoglobin c - beta-thalassemia10.2
24thalassemia, hispanic gamma-delta-beta10.1
25gaucher's disease10.0
26angioid streaks10.0
27cholelithiasis10.0
28thalassemia minor10.0
29sickle cell - hemoglobin e disease10.0
30autosomal dominant methemoglobinemia10.0
31pneumococcal meningitis10.0
32pyruvate kinase deficiency10.0G6PD
33iron metabolism disease10.0HFE
34hypothyroidism10.0BTD
35peritonitis10.0PECAM1
36diabetic retinopathy10.0HBA2
37neonatal jaundice10.0G6PD
38fetal hemoglobin quantitative trait locus 110.0HBG1
39blackwater fever10.0G6PD
40glomerulonephritis10.0PECAM1
41atransferrinemia10.0TF
42congenital hypothyroidism10.0BTD, G6PD
43hemoglobinuria10.0G6PD, HP
44viral hepatitis10.0HFE, G6PD
45klinefelter's syndrome10.0HBB
46hfe-associated hereditary hemochromatosis10.0HFE
47tuberculosis10.0HP, HBB
48acute myocardial infarction10.0PECAM1, TFRC
49hypogonadism10.0HFE, TF
50myocardial infarction10.0PECAM1, HFE

Graphical network of the top 20 diseases related to Hemoglobinopathy:



Diseases related to hemoglobinopathy

Clinical Features for Hemoglobinopathy

Drugs & Therapeutics for Hemoglobinopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Hemoglobinopathy:

id Genetic test Affiliating Genes
1 Hemoglobinopathy22

Anatomical Context for Hemoglobinopathy

Animal Models for Hemoglobinopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hemoglobinopathy

Sources:
51PubMed
See all sources

Articles related to Hemoglobinopathy:

(show top 50)    (show all 227)
idTitleAuthorsYear
1
Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China. (23383304)
2013
2
Misdiagnosis of Hb D-Punjab/I^-thalassemia is a potential pitfall in hemoglobinopathy screening programs: a case report. (23425159)
2013
3
Detection of acquired hemoglobinopathy in children with hematological malignancies at disease onset: results form a national referral centre. (24096989)
2013
4
HbSD-Punjab: Clinical and Hematological Profile of a Rare Hemoglobinopathy. (24276032)
2013
5
Prevalence of hemoglobinopathy, ABO and rhesus blood groups in rural areas of West Bengal, India. (23798945)
2012
6
Prevalence of hemoglobinopathy disorders in adult patients sent for diagnosis of anemia in saudi arabia. (21861712)
2012
7
Factors influencing outcome and incidence of late complications in children who underwent allogeneic hematopoietic stem cell transplantation for hemoglobinopathy. (23020512)
2012
8
Providing appropriate genetic information to healthy carriers of hemoglobinopathy can be a welcome and safe initiative: the Latium example. (22731645)
2012
9
A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures. (23125541)
2012
10
A silent composite hemoglobinopathy characterized by gene sequencing. (23461145)
2011
11
Increased prevalence of false positive hemoglobinopathy newborn screening in premature infants. (21584936)
2011
12
Renal medullary-like carcinoma in an adult without sickle cell hemoglobinopathy. (20145663)
2010
13
Tourniquet use and sickle cell hemoglobinopathy: how should we proceed? (20890260)
2010
14
Apparent desaturation on pulse oximetry because of hemoglobinopathy. (20930596)
2010
15
Hemoglobinopathy awareness among high school students in Antakya (Antioch), Turkey. (20213116)
2010
16
Target cells and hemoglobinopathy. (18763357)
2008
17
Prevalence of thalassemia in patients with microcytosis referred for hemoglobinopathy investigation in Ontario: a prospective cohort study. (17210523)
2007
18
Gold nanoparticle-based tool to study protein conformational variants: implications in hemoglobinopathy. (17379165)
2007
19
Screening for thalassemia and hemoglobinopathy in a rural area of Thailand: a preliminary study. (16862674)
2005
20
Quality of life in children with sickle cell hemoglobinopathy. (16077239)
2005
21
Pharmacokinetics of rofecoxib in children with sickle cell hemoglobinopathy. (15454838)
2004
22
The affinity of hemoglobin for oxygen affects ventilatory responses in mutant mice with Presbyterian hemoglobinopathy. (12829441)
2003
23
Allogeneic bone marrow transplantation in a child with hemoglobinopathy olmsted. (12142796)
2002
24
An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant. (9629496)
1998
25
Synthesized allosteric effectors of the hemoglobin molecule: a possible mechanism for improved erythrocyte oxygen release capability in hemoglobinopathy H disease. (9728926)
1998
26
Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state. (8905396)
1996
27
Priapism associated with sickle cell hemoglobinopathy in children: long-term effects on potency. (8632602)
1996
28
Accuracy of neurologic examination and history in detecting evidence of MRI-diagnosed cerebral infarctions in children with sickle cell hemoglobinopathy. (7782614)
1995
29
Iron deficiency anemia in hemoglobinopathy. (8213774)
1993
30
Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. (1561006)
1992
31
Immunogenicity of Haemophilus influenzae type b polysaccharide-tetanus protein conjugate vaccine in children with sickle hemoglobinopathy or malignancies, and after systemic Haemophilus influenzae type b infection. (1538281)
1992
32
Chronic mesangiolytic glomerulopathy in a patient with SC hemoglobinopathy. (2321646)
1990
33
Hydrops fetalis due to Bart hemoglobinopathy at Ramathibodi Hospital (1978-1987): a 10-year review. (2351917)
1990
34
Gallbladder function is altered in sickle hemoglobinopathy. (2649405)
1989
35
Altered vascular reactivity in sickle hemoglobinopathy. A possible protective factor from hypertension. (2643968)
1989
36
Sickle cell E hemoglobinopathy and pregnancy. (3347442)
1988
37
Combined bone marrow and gallium imaging. Differentiation of osteomyelitis and infarction in sickle hemoglobinopathy. (3165313)
1988
38
The Tennessee Newborn Hemoglobinopathy Screening Program. (3586637)
1987
39
Influence of methodology on glycosylated hemoglobin values in Nigerian subjects with sickle cell hemoglobinopathy. (6465829)
1984
40
Dapsone-induced methemoglobinemia and hemolysis in the presence of familial hemoglobinopathy Hasharon and familial methemoglobin reductase deficiency. (6765904)
1981
41
Red cell exchange in the pregnancy complicated by a major hemoglobinopathy. (7424983)
1980
42
Development and progression of renal papillary necrosis in SA hemoglobinopathy. (7233645)
1980
43
"Step-off" vertebral body: Gaucher's disease versus sickle cell hemoglobinopathy. (103410)
1979
44
Acute splenic sequestration crisis in an adolescent with S-C hemoglobinopathy. (419029)
1979
45
Pneumococcal meningitis in patients with a major sickle hemoglobinopathy. (619087)
1978
46
Surgical procedures in children with sickle hemoglobinopathy. (894432)
1977
47
Hemoglobinopathy with prolonged bactermia. A report of two cases. (1102736)
1975
48
Imbalance in alpha and beta globin synthesis associated with a hemoglobinopathy. (4430724)
1974
49
Angioid streaks in sickle cell trait hemoglobinopathy. (4819449)
1974
50
S hemoglobinopathy in a community hospital. Incidence and control. (5066610)
1972

Genetic Variations for Hemoglobinopathy

Expression for genes affiliated with Hemoglobinopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Hemoglobinopathy according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1aluminium citrate4510.6TF, TFRC
2ferric gluconate4510.6TF, EPO
3recormon4510.6TF, EPO
4porphobilinogen45 11 2412.5HBB, HBG1, TFRC
5deferiprone4510.5EPO, TFRC, TF
6aluminium45 1111.5EPO, TFRC, TF
7gallium4510.5TF, TFRC
8cellulose acetate4510.5G6PD, HBA2, HP
9tocopherol4510.5HP, TF, G6PD
10starch4510.5G6PD, TF, HP
11iron dextran45 1111.5HBB, EPO, TFRC, TF
12succinylacetone4510.5TF, TFRC, EPO, HBB
13iron sucrose4510.5TF, EPO
14fe2+4510.4TF, TFRC, HFE
15azathioprine45 50 2 1113.4G6PD, EPO, HBG1, HBB
16ribavirin45 50 1112.4HP, EPO, TF, G6PD
1723-diphosphoglycerate4510.4G6PD, EPO, HBA2, HBB, HP
18chloroquine45 2 50 29 1114.4G6PD, TF, TFRC, HP
19deferoxamine45 1111.4TF, TFRC, EPO, HP
20polyethylene glycol4510.4G6PD, TF, TFRC, HP
21benzidine4510.4HP, HBB, HBG1, EPO, TFRC
22aclacinomycin4510.4TFRC, HBG1
23hydroxyurea45 50 1112.4TFRC, EPO, HBA2, HBG1, HBB
24vitamin b64510.4BTD, EPO, ALAS2
25zinc protoporphyrin4510.4G6PD, TF, TFRC, EPO, HP
26aspartate4510.4G6PD, TFRC, HFE, HBB, ALAS2
275-aminolevulinic acid45 2411.4TFRC, HFE, HBG1, HBB, ALAS2
28vitamin b124510.4G6PD, TF, TFRC, EPO, HP
29methylcellulose4510.3HBG1, EPO, TFRC
30protoporphyrin ix45 11 2412.3TF, TFRC, EPO, HP, ALAS2
31citrate4510.3HP, TFRC, TF, G6PD
32folate4510.3G6PD, TF, TFRC, EPO, HP
33sialic acid4510.3TF, TFRC, EPO, HP, PECAM1
34bismuth45 2411.2TFRC, TF
35butyrate4510.2TFRC, EPO, HBA2, HBG1, HBB, ALAS2
36ascorbic acid45 2411.2G6PD, TF, TFRC, HFE, EPO, HP
37glyceraldehyde 3-phosphate4510.1HBB, HBG1, TFRC, G6PD
38cyclosporin a45 29 6012.1PECAM1, HP, EPO, TFRC, TF
39lactate4510.1G6PD, TF, TFRC, BTD, EPO, HBB
40creatinine4510.1HAMP, G6PD, TF, TFRC, EPO, HP
41glutamine4510.1G6PD, TF, TFRC, HBB, ALAS2
42estrogen4510.0G6PD, TF, TFRC, HFE, HBB, HP
43zinc45 2411.0ALAS2, HBB, HBG1, BTD, HFE, KLF1
44alanine4510.0TF, TFRC, HFE, BTD, HBA2, HBB
45artesunate45 5011.0TFRC, G6PD
46oxygen45 2410.9HAMP, G6PD, EPO, HBD, HBA2, HBG1
47thymidine45 2410.9TFRC, EPO, HBA2, HBB, PECAM1
48heme29 11 2411.8TF, HFE, HBD, HBM, HBG1, HBQ1
49iron45 2410.6ALAS2, HAMP, TF, TFRC, HFE, HFE2
50tyrosine459.6TFRC, HFE, BTD, EPO, HBA2, HBB

GO Terms for genes affiliated with Hemoglobinopathy

Sources:
16Gene Ontology
See all sources

Cellular components related to Hemoglobinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:03183810.3HP, HBB, HBA2
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:0056159.5ASIP, PECAM1, HP, EPO, BTD, HFE2
6extracellular regionGO:0055769.5HP, HBB, HBA2, EPO, BTD, TFRC

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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Sources for Hemoglobinopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet