MCID: HNZ004
MIFTS: 38

Heinz Body Anemias

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Heinz Body Anemias

MalaCards integrated aliases for Heinz Body Anemias:

Name: Heinz Body Anemias 57 53 75 73
Heinz Body Anemia 57 59 29 13 6
Heinz Body Anemias, Alpha- 57
Acquired Heinz Body Anemia 73
Heinz Body Anemias, Beta- 57
Anemia, Heinz Body 40
Heiban 75

Characteristics:

Orphanet epidemiological data:

59
heinz body anemia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
heinz body anemias:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 140700
Orphanet 59 ORPHA178330
UMLS via Orphanet 74 C0700299
ICD10 via Orphanet 34 D58.2
MedGen 42 C0700299
SNOMED-CT via HPO 69 263681008

Summaries for Heinz Body Anemias

OMIM : 57 This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). 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; 208530). (140700)

MalaCards based summary : Heinz Body Anemias, also known as heinz body anemia, is related to hemoglobinopathy and methemoglobinemia. An important gene associated with Heinz Body Anemias 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 phenotypes are nonspherocytic hemolytic anemia and abnormality of metabolism/homeostasis

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Heinz Body Anemias

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



Diseases related to Heinz Body Anemias

Symptoms & Phenotypes for Heinz Body Anemias

Symptoms via clinical synopsis from OMIM:

57
Heme:
nonspherocytic hemolytic anemia
heinz bodies in erythrocytes after splenectomy

Lab:
heat-labile hemoglobin


Clinical features from OMIM:

140700

Human phenotypes related to Heinz Body Anemias:

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

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

26
# 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 HBA2 HBA1
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 HBA2 HBA1

Drugs & Therapeutics for Heinz Body Anemias

Search Clinical Trials , NIH Clinical Center for Heinz Body Anemias

Genetic Tests for Heinz Body Anemias

Genetic tests related to Heinz Body Anemias:

# Genetic test Affiliating Genes
1 Heinz Body Anemia 29 HBA1 HBA2 HBB

Anatomical Context for Heinz Body Anemias

MalaCards organs/tissues related to Heinz Body Anemias:

41
Liver, Spleen

Publications for Heinz Body Anemias

Articles related to Heinz Body Anemias:

(show all 17)
# Title Authors Year
1
Severe Heinz body anemia and methemoglobinemia in a kitten with chronic diarrhea. ( 29615382 )
2018
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 that had been sprayed with skunk musk. ( 15882003 )
2005
4
Heinz body anemia in a dog following possible naphthalene ingestion. ( 12664426 )
1995
5
A review of Heinz-body anemia in the dog induced by toxins. ( 8470361 )
1993
6
Acute Heinz-body anemia due to severe cresol poisoning: successful treatment with erythrocytapheresis. ( 6722696 )
1984
7
Heinz-body anemia: &amp;quot;bite cell&amp;quot; variant--a light and electron microscopic study. ( 6613984 )
1983
8
Heinz body anemia and methemoglobinemia in ponies given red maple (acer rubrum L.) leaves. ( 7147611 )
1982
9
Salicylazosulphapyridine-induced Heinz body anemia. ( 25555 )
1978
10
Effect of hydrocortisone on phenylhydrazine-induced Heinz-body anemia. ( 688095 )
1978
11
Pathological study on experimental Heinz body anemia: intracellular changes of phagocytized red cells in macrophages of the spleen and liver. ( 930587 )
1977
12
Introduction to discussion of Heinz body anemias--unstable hemoglobinopathies. ( 4941678 )
1971
13
Current concepts: Heinz-body anemias. ( 5782720 )
1969
14
HEINZ BODY ANEMIA--AN ULTRASTRUCTURAL STUDY. I. HEINZ BODY FORMATION. ( 14294766 )
1965
15
Heinz body anemia: an ultrastructural study. II. Red cell sequestration and destruction. ( 5825007 )
1965
16
Oxidative hemolysis and precipitation of hemoglobin. I. Heinz body anemias as an acceleration of red cell aging. ( 13789379 )
1960
17
Heinz body anemia and related phenomena. ( 13642237 )
1959

Variations for Heinz Body Anemias

ClinVar genetic disease variations for Heinz Body Anemias:

6
(show all 18)
# 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.127_129delTTT (p.Phe43del) deletion Pathogenic rs41417446 GRCh38 Chromosome 11, 5226763: 5226765
3 HBB NM_000518.4(HBB): c.128T> C (p.Phe43Ser) single nucleotide variant Pathogenic rs34378160 GRCh37 Chromosome 11, 5247994: 5247994
4 HBB NM_000518.4(HBB): c.128T> C (p.Phe43Ser) single nucleotide variant Pathogenic rs34378160 GRCh38 Chromosome 11, 5226764: 5226764
5 HBB NM_000518.4(HBB): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs35849199 GRCh37 Chromosome 11, 5246935: 5246935
6 HBB NM_000518.4(HBB): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs35849199 GRCh38 Chromosome 11, 5225705: 5225705
7 HBB NM_000518.4(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 GRCh37 Chromosome 11, 5247827: 5247827
8 HBB NM_000518.4(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 GRCh38 Chromosome 11, 5226597: 5226597
9 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
10 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
11 HBB NM_000518.4(HBB): c.86T> A (p.Leu29Gln) single nucleotide variant Pathogenic rs33916412 GRCh37 Chromosome 11, 5248166: 5248166
12 HBB NM_000518.4(HBB): c.86T> A (p.Leu29Gln) single nucleotide variant Pathogenic rs33916412 GRCh38 Chromosome 11, 5226936: 5226936
13 HBB NM_000518.4(HBB): c.93G> T (p.Arg31Ser) single nucleotide variant Pathogenic rs1135071 GRCh37 Chromosome 11, 5248029: 5248029
14 HBB NM_000518.4(HBB): c.93G> T (p.Arg31Ser) single nucleotide variant Pathogenic rs1135071 GRCh38 Chromosome 11, 5226799: 5226799
15 HBA1; HBA2; LOC106804612 NM_000517.4(HBA2): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs41469945 GRCh37 Chromosome 16, 223580: 223580
16 HBA1; HBA2; LOC106804612 NM_000517.4(HBA2): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs41469945 GRCh38 Chromosome 16, 173581: 173581
17 HBA1 NM_000558.4(HBA1): c.410T> G (p.Leu137Arg) single nucleotide variant Pathogenic rs34635364 GRCh38 Chromosome 16, 177392: 177392
18 HBA1 NM_000558.4(HBA1): c.410T> G (p.Leu137Arg) single nucleotide variant Pathogenic rs34635364 GRCh37 Chromosome 16, 227391: 227391

Expression for Heinz Body Anemias

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

Pathways for Heinz Body Anemias

GO Terms for Heinz Body Anemias

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

# 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 Anemias according to GeneCards Suite gene sharing:

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

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

# 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 carrier activity GO:0005344 9.13 HBA1 HBA2 HBB
6 haptoglobin binding GO:0031720 8.8 HBA1 HBA2 HBB

Sources for Heinz Body Anemias

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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