MCID: HNZ001
MIFTS: 36

Heinz Body Anemia malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Heinz Body Anemia

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Sources:
49OMIM, 11diseasecard, 51Orphanet, 45NIH Rare Diseases, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Heinz Body Anemia:

Name: Heinz Body Anemia 49 11 51
Heinz Body Anemias 45 24 65 67
Heinz Body Anemias, Alpha- 49
 
Acquired Heinz Body Anemia 65
Heinz Body Anemias, Beta- 49
Heiban 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
heinz body anemia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM49 140700
Orphanet51 178330
ICD10 via Orphanet28 D58.2
UMLS via Orphanet66 C0700299
MedGen34 C0700299

Summaries for Heinz Body Anemia

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UniProtKB/Swiss-Prot:67 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 methemoglobinemia and hemoglobinopathy, and has symptoms including autosomal dominant inheritance, nonspherocytic hemolytic anemia and abnormality of metabolism/homeostasis. An important gene associated with Heinz Body Anemia is HBB (Hemoglobin, 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:49 140700

Related Diseases for Heinz Body Anemia

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Diseases related to Heinz Body Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1methemoglobinemia10.3
2hemoglobinopathy10.3
3acute respiratory distress syndrome10.3
4mediastinum rhabdomyosarcoma10.0HBA1, HBB
5avoidant personality disorder10.0HBA1, HBB
6hydrocephalus with stenosis of the aqueduct of sylvius9.9HBA1, HBA2
7prader-willi syndrome due to maternal uniparental disomy of chromosome 159.9HBA1, HBA2
8vertebral artery occlusion9.9HBA1, HBA2
9ichthyosis-short stature-brachydactyly-microspherophakia syndrome9.9HBA1, HBA2
10isolated anencephaly/exencephaly9.9HBA1, HBA2
11hydrops fetalis anemia immune disorder absent thumb9.9HBA1, HBA2
12autonomic nervous system neoplasm9.9HBA1, HBA2
13thbd-related atypical hemolytic-uremic syndrome9.9HBA2, HBB
14ethmoid sinus schneiderian papilloma9.9HBA2, HBB
15duodenogastric reflux9.8HBA2, HBB
16senile angioma9.8HBA2, HBB
17retinal vascular occlusion9.8HBA1, HBA2
18snyder-robinson syndrome9.8HBA2, HBB
19hemophagocytic lymphohistiocytosis9.8HBA2, HBB
20congenital hypoplastic anemia9.7HBA2, HBB
21actinic prurigo9.7HBA1, HBA2, HBB
22gaba-transaminase deficiency9.7HBA1, HBA2, HBB
23heinz body anemia9.7HBA1, HBA2, HBB
24aggressive periodontitis9.7HBA1, HBA2, HBB
25hemoglobinuria9.7HBA1, HBA2, HBB
26hemoglobin h disease, nondeletional9.7HBA1, HBA2, HBB
27sickle cell anemia9.7HBA1, HBA2, HBB
28thalassemia, hispanic gamma-delta-beta9.7HBA1, HBA2, HBB
29thromboangiitis obliterans9.7HBA1, HBA2, HBB
30tendinitis9.7HBA1, HBA2, HBB
31presbyopia9.6HBA2, HBB
32malaria9.6HBA1, HBA2, HBB

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 autosomal dominant inheritance HP:0000006
2 nonspherocytic hemolytic anemia HP:0001930
3 abnormality of metabolism/homeostasis HP:0001939
4 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 Anemias24

Anatomical Context for Heinz Body Anemia

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MalaCards organs/tissues related to Heinz Body Anemia:

33
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
Association of maximum voluntary dietary intake of freeze-dried garlic with Heinz body anemia in horses. (15822591)
2005
2
Heinz body anemia in a dog that had been sprayed with skunk musk. (15882003)
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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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:00226279.7HBA1, HBA2
2haptoglobin-hemoglobin complexGO:00318389.2HBA1, HBA2, HBB
3hemoglobin complexGO:00058339.1HBA1, HBA2, HBB
4endocytic vesicle lumenGO:00716829.1HBA1, HBA2, HBB
5blood microparticleGO:00725629.0HBA1, HBA2, HBB
6extracellular regionGO:00055768.5HBA1, HBA2, HBB

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:00156719.2HBA1, HBA2, HBB
2bicarbonate transportGO:00157019.1HBA1, HBA2, HBB
3protein heterooligomerizationGO:00512919.1HBA1, HBA2, HBB
4response to hydrogen peroxideGO:00425429.0HBA1, HBA2, HBB
5positive regulation of cell deathGO:00109428.7HBA1, HBA2, HBB
6hydrogen peroxide catabolic processGO:00427448.6HBA1, HBA2, HBB
7small molecule metabolic processGO:00442818.6HBA1, HBA2, HBB
8oxidation-reduction processGO:00551148.5HBA1, HBA2, HBB
9receptor-mediated endocytosisGO:00068988.2HBA1, HBA2, HBB

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053449.0HBA1, HBA2, HBB
2haptoglobin bindingGO:00317209.0HBA1, HBA2, HBB
3iron ion bindingGO:00055068.7HBA1, HBA2, HBB
4oxygen bindingGO:00198258.7HBA1, HBA2, HBB
5heme bindingGO:00200378.5HBA1, HBA2, HBB
6peroxidase activityGO:00046018.2HBA1, HBA2, HBB

Sources for Heinz Body Anemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet