MCID: HNZ001
MIFTS: 38

Heinz Body Anemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Heinz Body Anemia

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Heinz Body Anemia:

Name: Heinz Body Anemia 52 54 27 12
Heinz Body Anemias 52 48 70 68
Heinz Body Anemias, Alpha- 52
 
Acquired Heinz Body Anemia 68
Heinz Body Anemias, Beta- 52
Heiban 70

Characteristics:

Orphanet epidemiological data:

54
heinz body anemia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

64
heinz body anemia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 140700
Orphanet54 ORPHA178330
UMLS via Orphanet69 C0700299
ICD10 via Orphanet31 D58.2
MedGen37 C0700299

Summaries for Heinz Body Anemia

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UniProtKB/Swiss-Prot:70 Heinz body anemias: Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.

MalaCards based summary: Heinz Body Anemia, also known as heinz body anemias, is related to thalassemia minor and preeclampsia/eclampsia 4, and has symptoms including nonspherocytic hemolytic anemia, abnormality of metabolism/homeostasis and heinz body anemia. An important gene associated with Heinz Body Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways are Vesicle-mediated transport and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include liver and spleen, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased shRNA abundance (Z-score < -2).

Description from OMIM:52 140700

Related Diseases for Heinz Body Anemia

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Graphical network of the top 20 diseases related to Heinz Body Anemia:



Diseases related to heinz body anemia

Symptoms & Phenotypes for Heinz Body Anemia

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Symptoms by clinical synopsis from OMIM:

140700

Clinical features from OMIM:

140700

Human phenotypes related to Heinz Body Anemia:

 64
id Description HPO Frequency HPO Source Accession
1 nonspherocytic hemolytic anemia64 HP:0001930
2 abnormality of metabolism/homeostasis64 HP:0001939
3 heinz body anemia64 HP:0005511

GenomeRNAi Phenotypes related to Heinz Body Anemia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-356.4HBA1, HBA2, HBA1, HBA2, HBA1, HBA2
2GR00366-A-586.1HBA1, HBA2, HBA1, HBA2, HBA1, HBA2

Drugs & Therapeutics for Heinz Body Anemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Heinz Body Anemia

Genetic Tests for Heinz Body Anemia

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Genetic tests related to Heinz Body Anemia:

id Genetic test Affiliating Genes
1 Heinz Body Anemia27

Anatomical Context for Heinz Body Anemia

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MalaCards organs/tissues related to Heinz Body Anemia:

36
Liver, Spleen

Publications for Heinz Body Anemia

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Articles related to Heinz Body Anemia:

(show all 16)
idTitleAuthorsYear
1
Heinz body anemia in a dog that had been sprayed with skunk musk. (15882003)
2005
2
Association of maximum voluntary dietary intake of freeze-dried garlic with Heinz body anemia in horses. (15822591)
2005
3
Heinz body anemia in a dog following possible naphthalene ingestion. (12664426)
1995
4
A review of Heinz-body anemia in the dog induced by toxins. (8470361)
1993
5
Acute Heinz-body anemia due to severe cresol poisoning: successful treatment with erythrocytapheresis. (6722696)
1984
6
Heinz-body anemia: "bite cell" variant--a light and electron microscopic study. (6613984)
1983
7
Heinz body anemia and methemoglobinemia in ponies given red maple (acer rubrum L.) leaves. (7147611)
1982
8
Salicylazosulphapyridine-induced Heinz body anemia. (25555)
1978
9
Effect of hydrocortisone on phenylhydrazine-induced Heinz-body anemia. (688095)
1978
10
Pathological study on experimental Heinz body anemia: intracellular changes of phagocytized red cells in macrophages of the spleen and liver. (930587)
1977
11
Introduction to discussion of Heinz body anemias--unstable hemoglobinopathies. (4941678)
1971
12
Current concepts: Heinz-body anemias. (5782720)
1969
13
HEINZ BODY ANEMIA--AN ULTRASTRUCTURAL STUDY. I. HEINZ BODY FORMATION. (14294766)
1965
14
Heinz body anemia: an ultrastructural study. II. Red cell sequestration and destruction. (5825007)
1965
15
Oxidative hemolysis and precipitation of hemoglobin. I. Heinz body anemias as an acceleration of red cell aging. (13789379)
1960
16
Heinz body anemia and related phenomena. (13642237)
1959

Variations for Heinz Body Anemia

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Clinvar genetic disease variations for Heinz Body Anemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.127_129delTTT (p.Phe43del)deletionPathogenicrs41417446GRCh37Chr 11, 5247993: 5247995
2HBBNM_000518.4(HBB): c.128T> C (p.Phe43Ser)SNVPathogenicrs34378160GRCh37Chr 11, 5247994: 5247994
3HBBNM_000518.4(HBB): c.337T> C (p.Cys113Arg)SNVPathogenicrs35849199GRCh37Chr 11, 5246935: 5246935
4HBBNM_000518.4(HBB): c.86T> A (p.Leu29Gln)SNVPathogenicrs33916412GRCh37Chr 11, 5248166: 5248166
5HBBNM_000518.4(HBB): c.93G> T (p.Arg31Ser)SNVPathogenicrs1135071GRCh37Chr 11, 5248029: 5248029
6HBBNM_000518.4(HBB): c.295G> A (p.Val99Met)SNV, HaplotypePathogenicrs33933298GRCh37Chr 11, 5247827: 5247827
7HBA1;HBA2NM_000517.4(HBA2): c.410T> C (p.Leu137Pro)SNVPathogenicrs41469945GRCh37Chr 16, 223580: 223580
8HBA1NM_000558.4(HBA1): c.410T> G (p.Leu137Arg)SNVPathogenicrs34635364GRCh38Chr 16, 177392: 177392

Expression for genes affiliated with Heinz Body Anemia

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Search GEO for disease gene expression data for Heinz Body Anemia.

Pathways for genes affiliated with Heinz Body Anemia

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GO Terms for genes affiliated with Heinz Body Anemia

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Cellular components related to Heinz Body Anemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolic small ribosomal subunitGO:00226279.9HBA1, HBA2
2blood microparticleGO:00725629.3HBA1, HBA2, HBB
3endocytic vesicle lumenGO:00716829.3HBA1, HBA2, HBB
4extracellular regionGO:00055768.8HBA1, HBA2, HBB
5haptoglobin-hemoglobin complexGO:00318388.8HBA1, HBA2, HBB
6hemoglobin complexGO:00058338.5HBA1, HBA2, HBB

Biological processes related to Heinz Body Anemia according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1bicarbonate transportGO:00157019.2HBA1, HBA2, HBB
2cellular oxidant detoxificationGO:00988699.1HBA1, HBA2, HBB
3hydrogen peroxide catabolic processGO:00427449.1HBA1, HBA2, HBB
4oxygen transportGO:00156719.1HBA1, HBA2, HBB
5positive regulation of cell deathGO:00109429.1HBA1, HBA2, HBB
6protein heterooligomerizationGO:00512919.1HBA1, HBA2, HBB
7receptor-mediated endocytosisGO:00068989.0HBA1, HBA2, HBB
8response to hydrogen peroxideGO:00425428.5HBA1, HBA2, HBB

Molecular functions related to Heinz Body Anemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:00317209.1HBA1, HBA2, HBB
2heme bindingGO:00200379.1HBA1, HBA2, HBB
3iron ion bindingGO:00055069.0HBA1, HBA2, HBB
4oxygen bindingGO:00198258.9HBA1, HBA2, HBB
5oxygen transporter activityGO:00053448.9HBA1, HBA2, HBB
6peroxidase activityGO:00046018.5HBA1, HBA2, HBB

Sources for Heinz Body Anemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet