HEIBAN
MCID: HNZ004
MIFTS: 38

Heinz Body Anemias (HEIBAN)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Heinz Body Anemias

MalaCards integrated aliases for Heinz Body Anemias:

Name: Heinz Body Anemias 58 54 76 74
Heinz Body Anemia 58 30 13 6
Heinz Body Anemias, Alpha- 58
Acquired Heinz Body Anemia 74
Anemia, Heinz Body 41
Heiban 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
heinz body anemias:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 140700
MedGen 43 C0700299
SNOMED-CT via HPO 70 263681008

Summaries for Heinz Body Anemias

OMIM : 58 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 hemolytic anemia and deficiency anemia. An important gene associated with Heinz Body Anemias is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Vesicle-mediated transport and Selenium Micronutrient Network. Affiliated tissues include liver and spleen, and related phenotypes are abnormality of metabolism/homeostasis and nonspherocytic hemolytic anemia

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Heinz Body Anemias:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 nonspherocytic hemolytic anemia 33 HP:0001930
3 heinz body anemia 33 HP:0005511

Symptoms via clinical synopsis from OMIM:

58
Heme:
nonspherocytic hemolytic anemia
heinz bodies in erythrocytes after splenectomy

Lab:
heat-labile hemoglobin

Clinical features from OMIM:

140700

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

27
# 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 HBA1 HBA2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 HBA1 HBA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.7 HBA1 HBA2

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 30 HBA1 HBA2 HBB

Anatomical Context for Heinz Body Anemias

MalaCards organs/tissues related to Heinz Body Anemias:

42
Liver, Spleen

Publications for Heinz Body Anemias

Articles related to Heinz Body Anemias:

(show all 49)
# 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
Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily. ( 11939506 )
2002
5
Heinz body anemia in a dog following possible naphthalene ingestion. ( 12664426 )
1995
6
Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama. ( 7558871 )
1995
7
Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family. ( 7864023 )
1995
8
A review of Heinz-body anemia in the dog induced by toxins. ( 8470361 )
1993
9
Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis. ( 2005117 )
1991
10
Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted. ( 2599881 )
1989
11
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. ( 3260032 )
1988
12
Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids. ( 2833478 )
1987
13
Hb Saint Louis or alpha 2 beta 2(28)(B10)Leu----Gln in a Czechoslovakian male. ( 3557999 )
1986
14
Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes. ( 3768534 )
1986
15
A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain. ( 3781865 )
1986
16
Hb Tacoma [beta 30(B12) Arg----Ser], a slightly unstable hemoglobin variant found in Japan. ( 3937827 )
1985
17
Acute Heinz-body anemia due to severe cresol poisoning: successful treatment with erythrocytapheresis. ( 6722696 )
1984
18
Heinz-body anemia: "bite cell" variant--a light and electron microscopic study. ( 6613984 )
1983
19
Heinz body anemia and methemoglobinemia in ponies given red maple (acer rubrum L.) leaves. ( 7147611 )
1982
20
beta 0 thalassemia, a nonsense mutation in man. ( 88735 )
1979
21
Hemoglobin J Altgeld Gardens. A hemoglobin variant with a substitution of the proximal histidine of the beta-chain. ( 721609 )
1978
22
Effect of hydrocortisone on phenylhydrazine-induced Heinz-body anemia. ( 688095 )
1978
23
Salicylazosulphapyridine-induced Heinz body anemia. ( 25555 )
1978
24
Pathological study on experimental Heinz body anemia: intracellular changes of phagocytized red cells in macrophages of the spleen and liver. ( 930587 )
1977
25
Functional and physicochemical studies of hemoglobin St. Louis beta 28 (B10) Leu replaced by Gln: a variant with ferric beta heme iron. ( 186485 )
1976
26
Hemoglobin Toluchi: beta 131 glutamine leads to glutamic acid, an example of Hb Camden in Japan. ( 1173714 )
1975
27
A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia. ( 1164567 )
1975
28
New unstable haemoglobin (Hb Moscva, beta24 (B4) Gly leads to Asp) found in the USSR. ( 4525423 )
1974
29
Hemoglobin San Diego (beta 109 (G11) val--met). Crystal structure of the deoxy form. ( 4808645 )
1974
30
"In vitro" normal biosynthesis of an unstable ferri-hemoglobin: hemoglobin Saint Louis B10 (beta28) leu yields gln. ( 4281476 )
1974
31
Identical substitution in Hb Ube-1 and Hb Köln. ( 4514958 )
1973
32
Unstable haemoglobin Köln disease in members of a Malay family. ( 5079107 )
1972
33
Introduction to discussion of Heinz body anemias--unstable hemoglobinopathies. ( 4941678 )
1971
34
Hemoglobin Köln disease occurring as a fresh mutation: erythrocyte metabolism and survival. ( 4942314 )
1971
35
Current concepts: Heinz-body anemias. ( 5782720 )
1969
36
Structural characterization of hemoglobin Tacoma. ( 5785231 )
1969
37
Hemoglobin-Bibba or alpha-2-136Pro-beta 2, an unstable alpha chain abnormal hemoglobin. ( 5639009 )
1968
38
Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid. ( 5698750 )
1968
39
Köln haemoglobinopathy. Further data and a comparison with other hereditary Heinz body anaemias. ( 6067323 )
1967
40
Haemoglobin sydney: Beta-67 (E11) valine modified to alanine: an emerging pattern of unstable haemoglobins. ( 6050213 )
1967
41
A West Australian family with a haemolytic disorder associated with haemoglobin Köln. ( 6029950 )
1967
42
Hemoglobin M disease in Japan. ( 5856115 )
1965
43
HEINZ BODY ANEMIA--AN ULTRASTRUCTURAL STUDY. I. HEINZ BODY FORMATION. ( 14294766 )
1965
44
Heinz body anemia: an ultrastructural study. II. Red cell sequestration and destruction. ( 5825007 )
1965
45
Hemoglobin tacoma--a beta-chain variant associated with increased hb A2. ( 5869485 )
1965
46
[Hemoglobin Köln disease: familial hypochromic hemolytic anemia with hemoglobin anomaly]. ( 5881530 )
1965
47
HEREDITARY HEINZ-BODY ANAEMIA, THROMBOCYTOPENIA, AND HAEMOGLOBINOPATHY (HB KOELN) IN A GLASGOW FAMILY. ( 14198723 )
1964
48
Oxidative hemolysis and precipitation of hemoglobin. I. Heinz body anemias as an acceleration of red cell aging. ( 13789379 )
1960
49
Heinz body anemia and related phenomena. ( 13642237 )
1959

Variations for Heinz Body Anemias

ClinVar genetic disease variations for Heinz Body Anemias:

6 (show all 40)
# 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_000518.5(HBB): c.128T> C (p.Phe43Ser) single nucleotide variant Pathogenic rs34378160 GRCh37 Chromosome 11, 5247994: 5247994
4 HBB NM_000518.5(HBB): c.128T> C (p.Phe43Ser) single nucleotide variant Pathogenic rs34378160 GRCh38 Chromosome 11, 5226764: 5226764
5 HBB NM_000518.5(HBB): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs35849199 GRCh37 Chromosome 11, 5246935: 5246935
6 HBB NM_000518.5(HBB): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs35849199 GRCh38 Chromosome 11, 5225705: 5225705
7 HBB NM_000518.5(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 GRCh37 Chromosome 11, 5247827: 5247827
8 HBB NM_000518.5(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 GRCh38 Chromosome 11, 5226597: 5226597
9 HBB NM_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
10 HBB NM_000518.5(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_000518.5(HBB): c.93G> T (p.Arg31Ser) single nucleotide variant Pathogenic rs1135071 GRCh37 Chromosome 11, 5248029: 5248029
14 HBB NM_000518.5(HBB): c.93G> T (p.Arg31Ser) single nucleotide variant Pathogenic rs1135071 GRCh38 Chromosome 11, 5226799: 5226799
15 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh37 Chromosome 11, 5248200: 5248200
16 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh38 Chromosome 11, 5226970: 5226970
17 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh37 Chromosome 11, 5248004: 5248004
18 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh38 Chromosome 11, 5226774: 5226774
19 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 GRCh37 Chromosome 11, 5248159: 5248159
20 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 GRCh38 Chromosome 11, 5226929: 5226929
21 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 GRCh37 Chromosome 11, 5247806: 5247806
22 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 GRCh38 Chromosome 11, 5226576: 5226576
23 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 GRCh37 Chromosome 11, 5248155: 5248155
24 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 GRCh38 Chromosome 11, 5226925: 5226925
25 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 GRCh37 Chromosome 11, 5248154: 5248154
26 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 GRCh38 Chromosome 11, 5226924: 5226924
27 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 GRCh37 Chromosome 11, 5248050: 5248050
28 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 GRCh38 Chromosome 11, 5226820: 5226820
29 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 GRCh37 Chromosome 11, 5247062: 5247062
30 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 GRCh38 Chromosome 11, 5225832: 5225832
31 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 GRCh37 Chromosome 11, 5248330: 5248330
32 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 GRCh38 Chromosome 11, 5227100: 5227100
33 HBA1; HBA2; LOC106804612 NM_000517.6(HBA2): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs41469945 GRCh37 Chromosome 16, 223580: 223580
34 HBA1; HBA2; LOC106804612 NM_000517.6(HBA2): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs41469945 GRCh38 Chromosome 16, 173581: 173581
35 HBA1 NM_000558.5(HBA1): c.410T> G (p.Leu137Arg) single nucleotide variant Pathogenic rs34635364 GRCh38 Chromosome 16, 177392: 177392
36 HBA1 NM_000558.5(HBA1): c.410T> G (p.Leu137Arg) single nucleotide variant Pathogenic rs34635364 GRCh37 Chromosome 16, 227391: 227391
37 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 GRCh37 Chromosome 11, 5248388: 5248388
38 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 GRCh38 Chromosome 11, 5227158: 5227158
39 HBB NM_000518.5(HBB): c.-138C> A single nucleotide variant Pathogenic/Likely pathogenic rs33944208 GRCh37 Chromosome 11, 5248389: 5248389
40 HBB NM_000518.5(HBB): c.-138C> A single nucleotide variant Pathogenic/Likely pathogenic rs33944208 GRCh38 Chromosome 11, 5227159: 5227159

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 exosome GO:0070062 9.58 HBA1 HBA2 HBB
2 extracellular space GO:0005615 9.54 HBA1 HBA2 HBB
3 blood microparticle GO:0072562 9.43 HBA1 HBA2 HBB
4 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
5 cytosolic small ribosomal subunit GO:0022627 9.32 HBA1 HBA2
6 hemoglobin complex GO:0005833 9.13 HBA1 HBA2 HBB
7 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 heme binding GO:0020037 9.54 HBA1 HBA2 HBB
2 oxygen binding GO:0019825 9.5 HBA1 HBA2 HBB
3 peroxidase activity GO:0004601 9.43 HBA1 HBA2 HBB
4 iron ion binding GO:0005506 9.4 HBA1 HBA2
5 oxygen carrier activity GO:0005344 9.33 HBA1 HBA2 HBB
6 organic acid binding GO:0043177 9.13 HBA1 HBA2 HBB
7 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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