HEIBAN
MCID: HNZ001
MIFTS: 39

Heinz Body Anemia (HEIBAN) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Heinz Body Anemia

Aliases & Descriptions for Heinz Body Anemia:

Name: Heinz Body Anemia 54 56 29 13
Heinz Body Anemias 54 50 66 69
Heinz Body Anemias, Alpha- 54
Acquired Heinz Body Anemia 69
Heinz Body Anemias, Beta- 54
Heiban 66

Characteristics:

Orphanet epidemiological data:

56
heinz body anemia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

HPO:

32
heinz body anemia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 140700
Orphanet 56 ORPHA178330
UMLS via Orphanet 70 C0700299
ICD10 via Orphanet 34 D58.2
MedGen 40 C0700299

Summaries for Heinz Body Anemia

UniProtKB/Swiss-Prot : 66 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 cardiomyopathy, dilated, 1w and tmem216-related meckel syndrome, and has symptoms including 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/superpathways are Vesicle-mediated transport and Folate Metabolism. Affiliated tissues include liver and spleen, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Description from OMIM: 140700

Related Diseases for Heinz Body Anemia

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1w 10.1 HBA2 HBB
2 tmem216-related meckel syndrome 10.0 HBA2 HBB
3 tmem237-related joubert syndrome 10.0 HBA2 HBB
4 tmem231-related joubert syndrome 10.0 HBA2 HBB
5 brucella canis brucellosis 10.0 HBA2 HBB
6 tk2-related mitochondrial dna depletion syndrome, myopathic form 10.0 HBA2 HBB
7 hypersensitivity pneumonitis, familial 10.0 HBA1 HBA2
8 meningeal melanocytoma 10.0 HBA2 HBB
9 ichthyosis, congenital, autosomal recessive 8 10.0 HBA1 HBA2
10 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0 HBA1 HBA2
11 paroxysmal nonkinesigenic dyskinesia 2 10.0 HBA1 HBA2
12 pleuropulmonary blastoma 10.0 HBA1 HBA2
13 alzheimer's disease 11 10.0 HBA1 HBA2
14 lmna-related cardiocutaneous progeria syndrome 10.0 HBA1 HBA2
15 anorectal stricture 10.0 HBA1 HBA2
16 chronic laryngitis 9.9 HBA1 HBB
17 hemopericardium 9.9 HBA1 HBA2
18 oxyphilic adenoma 9.9 HBA1 HBB
19 endometrial adenocarcinoma 9.9 HBA1 HBB
20 vernal conjunctivitis 9.9 HBA1 HBA2
21 methemoglobinemia 9.9
22 hemoglobinopathy 9.9
23 hepatitis b 9.9 HBA2 HBB
24 peroneal neuropathy 9.9 HBA1 HBA2
25 t-cell large granular lymphocyte leukemia 9.8 HBA1 HBB
26 body dysmorphic disorder 9.8 HBA1 HBA2
27 michelin tire baby syndrome 9.8 HBA1 HBA2 HBB
28 surfactant metabolism dysfunction, pulmonary, 3 9.8 HBA1 HBA2 HBB
29 gaba-transaminase deficiency 9.7 HBA1 HBA2 HBB
30 larynx sarcoma 9.7 HBA1 HBA2 HBB
31 thalassemia-beta, dominant inclusion-body 9.7 HBA1 HBA2 HBB
32 fetal hemoglobin quantitative trait locus 1 9.7 HBA1 HBA2 HBB
33 tracheal cancer 9.7 HBA1 HBA2 HBB
34 neuronal ceroid-lipofuscinoses 9.7 HBA1 HBB
35 immunodeficiency due to defect in mapbp-interacting protein 9.7 HBA1 HBA2 HBB

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



Diseases related to Heinz Body Anemia

Symptoms & Phenotypes for Heinz Body Anemia

Symptoms by clinical synopsis from OMIM:

140700

Clinical features from OMIM:

140700

Human phenotypes related to Heinz Body Anemia:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 nonspherocytic hemolytic anemia 32 HP:0001930
3 heinz body anemia 32 HP:0005511

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.91 HBA1 HBA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.91 HBA1 HBA2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 HBA1 HBA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 HBA2 HBA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 HBA2 HBA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.7 HBA1 HBA2

Drugs & Therapeutics for Heinz Body Anemia

Search Clinical Trials , NIH Clinical Center for Heinz Body Anemia

Genetic Tests for Heinz Body Anemia

Genetic tests related to Heinz Body Anemia:

id Genetic test Affiliating Genes
1 Heinz Body Anemia 29

Anatomical Context for Heinz Body Anemia

MalaCards organs/tissues related to Heinz Body Anemia:

39
Liver, Spleen

Publications for Heinz Body Anemia

Articles related to Heinz Body Anemia:

(show all 16)
id Title Authors Year
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. II. Red cell sequestration and destruction. ( 5825007 )
1965
14
HEINZ BODY ANEMIA--AN ULTRASTRUCTURAL STUDY. I. HEINZ BODY FORMATION. ( 14294766 )
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

ClinVar genetic disease variations for Heinz Body Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.127_129delTTT (p.Phe43del) deletion Pathogenic rs41417446 GRCh37 Chromosome 11, 5247993: 5247995
2 HBB NM_000518.4(HBB): c.128T> C (p.Phe43Ser) single nucleotide variant Pathogenic rs34378160 GRCh37 Chromosome 11, 5247994: 5247994
3 HBB NM_000518.4(HBB): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs35849199 GRCh37 Chromosome 11, 5246935: 5246935
4 HBB NM_000518.4(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 GRCh37 Chromosome 11, 5247827: 5247827
5 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic,protective rs334 GRCh37 Chromosome 11, 5248232: 5248232
6 HBB NM_000518.4(HBB): c.86T> A (p.Leu29Gln) single nucleotide variant Pathogenic rs33916412 GRCh37 Chromosome 11, 5248166: 5248166
7 HBB NM_000518.4(HBB): c.93G> T (p.Arg31Ser) single nucleotide variant Pathogenic rs1135071 GRCh37 Chromosome 11, 5248029: 5248029
8 HBA1; HBA2 NM_000517.4(HBA2): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs41469945 GRCh37 Chromosome 16, 223580: 223580
9 HBA1 NM_000558.4(HBA1): c.410T> G (p.Leu137Arg) single nucleotide variant Pathogenic rs34635364 GRCh38 Chromosome 16, 177392: 177392

Expression for Heinz Body Anemia

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

Pathways for Heinz Body Anemia

GO Terms for Heinz Body Anemia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.54 HBA1 HBA2 HBB
2 blood microparticle GO:0072562 9.43 HBA1 HBA2 HBB
3 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
4 cytosolic small ribosomal subunit GO:0022627 9.32 HBA1 HBA2
5 hemoglobin complex GO:0005833 9.13 HBA1 HBA2 HBB
6 haptoglobin-hemoglobin complex GO:0031838 8.8 HBA1 HBA2 HBB

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.63 HBA1 HBA2 HBB
2 receptor-mediated endocytosis GO:0006898 9.61 HBA1 HBA2 HBB
3 cellular oxidant detoxification GO:0098869 9.58 HBA1 HBA2 HBB
4 protein heterooligomerization GO:0051291 9.54 HBA1 HBA2 HBB
5 response to hydrogen peroxide GO:0042542 9.5 HBA1 HBA2 HBB
6 bicarbonate transport GO:0015701 9.43 HBA1 HBA2 HBB
7 positive regulation of cell death GO:0010942 9.33 HBA1 HBA2 HBB
8 hydrogen peroxide catabolic process GO:0042744 9.13 HBA1 HBA2 HBB
9 oxygen transport GO:0015671 8.8 HBA1 HBA2 HBB

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

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.54 HBA1 HBA2 HBB
2 heme binding GO:0020037 9.5 HBA1 HBA2 HBB
3 oxygen binding GO:0019825 9.43 HBA1 HBA2 HBB
4 peroxidase activity GO:0004601 9.33 HBA1 HBA2 HBB
5 oxygen transporter activity GO:0005344 9.13 HBA1 HBA2 HBB
6 haptoglobin binding GO:0031720 8.8 HBA1 HBA2 HBB

Sources for Heinz Body Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....