MCID: HNZ001
MIFTS: 40

Heinz Body Anemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Heinz Body Anemia

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Sources:
50OMIM, 52Orphanet, 25GTR, 12diseasecard, 46NIH Rare Diseases, 68UniProtKB/Swiss-Prot, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Heinz Body Anemia:

Name: Heinz Body Anemia 50 52 25 12
Heinz Body Anemias 50 46 68 66
Heinz Body Anemias, Alpha- 50
 
Acquired Heinz Body Anemia 66
Heinz Body Anemias, Beta- 50
Heiban 68

Characteristics:

Orphanet epidemiological data:

52
heinz body anemia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

62
heinz body anemia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 140700
Orphanet52 ORPHA178330
ICD10 via Orphanet29 D58.2
UMLS via Orphanet67 C0700299
MedGen35 C0700299

Summaries for Heinz Body Anemia

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UniProtKB/Swiss-Prot:68 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 Binding and Uptake of Ligands by Scavenger Receptors and Vesicle-mediated transport. Affiliated tissues include liver and spleen.

Description from OMIM:50 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 for Heinz Body Anemia

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Symptoms by clinical synopsis from OMIM:

140700

Clinical features from OMIM:

140700

HPO human phenotypes related to Heinz Body Anemia:

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

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 Anemia25

Anatomical Context for Heinz Body Anemia

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MalaCards organs/tissues related to Heinz Body Anemia:

34
Liver, Spleen

Animal Models for Heinz Body Anemia or affiliated genes

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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: &quot;bite cell&quot; 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)single nucleotide variantPathogenicrs34378160GRCh37Chr 11, 5247994: 5247994
3HBBNM_000518.4(HBB): c.337T> C (p.Cys113Arg)single nucleotide variantPathogenicrs35849199GRCh37Chr 11, 5246935: 5246935
4HBBNM_000518.4(HBB): c.295G> A (p.Val99Met)single nucleotide variantPathogenicrs33933298GRCh37Chr 11, 5247827: 5247827
5HBBNM_000518.4(HBB): c.86T> A (p.Leu29Gln)single nucleotide variantPathogenicrs33916412GRCh37Chr 11, 5248166: 5248166
6HBBNM_000518.4(HBB): c.93G> T (p.Arg31Ser)single nucleotide variantPathogenicrs1135071GRCh37Chr 11, 5248029: 5248029
7HBBNM_000518.4(HBB): c.295G> A (p.Val99Met)single nucleotide variantPathogenicrs33933298GRCh37Chr 11, 5247827: 5247827
8NM_000517.4(HBA2): c.410T> C (p.Leu137Pro)single nucleotide variantPathogenicrs41469945GRCh37Chr 16, 223580: 223580
9HBA1NM_000558.4(HBA1): c.410T> G (p.Leu137Arg)single nucleotide variantPathogenicrs34635364GRCh38Chr 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:00226279.6HBA1, HBA2
2haptoglobin-hemoglobin complexGO:00318389.2HBA1, HBA2, HBB
3endocytic vesicle lumenGO:00716829.1HBA1, HBA2, HBB
4hemoglobin complexGO:00058339.0HBA1, HBA2, HBB
5blood microparticleGO:00725628.5HBA1, HBA2, HBB
6extracellular regionGO:00055768.5HBA1, HBA2, HBB

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide catabolic processGO:00427449.0HBA1, HBA2, HBB
2cellular oxidant detoxificationGO:00988698.8HBA1, HBA2, HBB
3oxygen transportGO:00156718.8HBA1, HBA2, HBB
4bicarbonate transportGO:00157018.7HBA1, HBA2, HBB
5protein heterooligomerizationGO:00512918.7HBA1, HBA2, HBB
6response to hydrogen peroxideGO:00425428.7HBA1, HBA2, HBB
7positive regulation of cell deathGO:00109428.5HBA1, HBA2, HBB
8receptor-mediated endocytosisGO:00068988.2HBA1, 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
2peroxidase activityGO:00046019.1HBA1, HBA2, HBB
3oxygen transporter activityGO:00053449.1HBA1, HBA2, HBB
4oxygen bindingGO:00198258.7HBA1, HBA2, HBB
5iron ion bindingGO:00055068.5HBA1, HBA2, HBB
6heme bindingGO:00200378.2HBA1, HBA2, HBB

Sources for Heinz Body Anemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet