MCID: HNZ001
MIFTS: 39

Heinz Body Anemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Heinz Body Anemia

About this section
Sources:
49OMIM, 11diseasecard, 51Orphanet, 24GTR, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Heinz Body Anemia:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
heinz body anemia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 140700
Orphanet51 178330
ICD10 via Orphanet28 D58.2
UMLS via Orphanet66 C0700299
MedGen34 C0700299
UMLS65 C0272007, C0700299

Summaries for Heinz Body Anemia

About this section
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 hemoglobinopathy and thbd-related atypical hemolytic-uremic syndrome, and has symptoms including heinz body anemia, abnormality of metabolism/homeostasis and nonspherocytic hemolytic 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 bone, breast and bone marrow.

Description from OMIM:49 140700

Related Diseases for Heinz Body Anemia

About this section

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

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinopathy29.5HBA1, HBB
2thbd-related atypical hemolytic-uremic syndrome10.0HBA2, HBB
3methemoglobinemia10.0
4snyder-robinson syndrome9.9HBA2, HBB
5heinz body anemia9.9HBA1, HBA2
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 syndrome9.8HBA1, HBA2
10immune hydrops fetalis9.8HBA1, HBA2
11hydrops fetalis anemia immune disorder absent thumb9.8HBA1, HBA2
12polydactyly9.8HBA1, HBA2
13sickle cell anemia9.8HBA2, HBB
14internuclear ophthalmoplegia9.8HBA1, HBB
15hemophagocytic lymphohistiocytosis9.7HBA2, HBB
16psychotic disorder9.7HBA1, HBA2
17pulmonary alveolar proteinosis9.7HBA1, HBB
18mental retardation, x-linked 39.7HBA1, HBB
19qazi markouizos syndrome9.6HBA1, HBB
20hyperglycemia9.5HBA1, HBA2
21organic acidemia9.4HBA1, HBA2
22intrapelvic lymph node leukemic reticuloendotheliosis9.4HBA2, HBB
23actinic prurigo9.3HBA1, HBA2, HBB
24gaba-transaminase deficiency9.3HBA1, HBA2, HBB
25congenital nonspherocytic hemolytic anemia9.3HBA1, HBA2, HBB
26hemoglobin h disease, nondeletional9.3HBA1, HBA2, HBB
27thalassemia-beta, dominant inclusion-body9.3HBA1, HBA2, HBB
28thromboangiitis obliterans9.3HBA1, HBA2, HBB
29tendinitis9.3HBA1, HBA2, HBB
30malaria9.1HBA1, 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

About this section

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 heinz body anemia HP:0005511
2 abnormality of metabolism/homeostasis HP:0001939
3 nonspherocytic hemolytic anemia HP:0001930

Drugs & Therapeutics for Heinz Body Anemia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Heinz Body Anemia

Genetic Tests for Heinz Body Anemia

About this section

Anatomical Context for Heinz Body Anemia

About this section

MalaCards organs/tissues related to Heinz Body Anemia:

33
Bone, Breast, Bone marrow, Lymph node, Heart, Pituitary, Myeloid

Animal Models for Heinz Body Anemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Heinz Body Anemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Heinz Body Anemia

About this section

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

About this section

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

About this section
Search GEO for disease gene expression data for Heinz Body Anemia.

Pathways for genes affiliated with Heinz Body Anemia

About this section

GO Terms for genes affiliated with Heinz Body Anemia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cytosolic small ribosomal subunitGO:00226279.8HBA1, HBA2
2haptoglobin-hemoglobin complexGO:00318389.2HBA1, HBA2, HBB
3cytosolGO:00058298.5HBA1, HBA2, HBB

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

idNameGO IDScoreTop Affiliating Genes
1receptor-mediated endocytosisGO:00068988.5HBA1, HBA2, HBB
2protein heterooligomerizationGO:00512918.4HBA1, HBA2, HBB

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053449.7HBA1, HBA2
2haptoglobin bindingGO:00317209.2HBA1, HBA2, HBB
3peroxidase activityGO:00046019.1HBA1, HBA2, HBB
4protein bindingGO:00055158.5HBA1, HBA2, HBB

Sources for Heinz Body Anemia

About this section
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