HBH
MCID: HMG025
MIFTS: 39

Hemoglobin H Disease, Nondeletional (HBH) malady

Categories: Genetic diseases, Endocrine diseases, Blood diseases, Rare diseases

Aliases & Classifications for Hemoglobin H Disease, Nondeletional

Aliases & Descriptions for Hemoglobin H Disease, Nondeletional:

Name: Hemoglobin H Disease, Nondeletional 54 29 13
Hemoglobin H Disease 54 12 56 66 29 14 69
Alpha-Thalassemia Intermedia 12 56
Hbh 12 66
Alpha Thalassemia, Hemoglobin H Type 12
Alpha-Thalassemia Hemoglobin H Type 66
Hemoglobin H Disease Non-Deletional 66
Hemoglobin H Disease, Deletional 12
Hemoglobin H Disease Deletional 66
Alpha-Thalassemia 69
Hbh Disease 56

Characteristics:

Orphanet epidemiological data:

56
hemoglobin h disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States); Age of onset: All ages;

Classifications:



External Ids:

OMIM 54 613978
Disease Ontology 12 DOID:0110031
ICD10 33 D56.0
Orphanet 56 ORPHA93616
UMLS via Orphanet 70 C3161174
ICD10 via Orphanet 34 D56.0
MeSH 42 D017085

Summaries for Hemoglobin H Disease, Nondeletional

OMIM : 54 Hemoglobin H disease is a subtype of alpha-thalassemia (see 604131) in which patients have compound heterozygosity for... (613978) more...

MalaCards based summary : Hemoglobin H Disease, Nondeletional, also known as hemoglobin h disease, is related to alpha-thalassemia myelodysplasia syndrome, somatic and thalassemias, alpha-, and has symptoms including splenomegaly, hepatomegaly and hemolytic anemia. An important gene associated with Hemoglobin H Disease, Nondeletional is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Binding and Uptake of Ligands by Scavenger Receptors. Related phenotype is Decreased shRNA abundance (Z-score < -2).

Disease Ontology : 12 An alpha thalassemia that has material basis in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.

UniProtKB/Swiss-Prot : 66 Hemoglobin H disease: A form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence.

Related Diseases for Hemoglobin H Disease, Nondeletional

Diseases related to Hemoglobin H Disease, Nondeletional via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
id Related Disease Score Top Affiliating Genes
1 alpha-thalassemia myelodysplasia syndrome, somatic 11.2
2 thalassemias, alpha- 11.1
3 hypersensitivity pneumonitis, familial 10.3 HBA1 HBA2
4 ichthyosis, congenital, autosomal recessive 8 10.3 HBA1 HBA2
5 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3 HBA1 HBA2
6 paroxysmal nonkinesigenic dyskinesia 2 10.3 HBA1 HBA2
7 cardiomyopathy, dilated, 1w 10.3 HBA2 HBB
8 pleuropulmonary blastoma 10.3 HBA1 HBA2
9 chronic laryngitis 10.3 HBA1 HBB
10 lmna-related cardiocutaneous progeria syndrome 10.3 HBA1 HBA2
11 tmem216-related meckel syndrome 10.2 HBA2 HBB
12 tmem237-related joubert syndrome 10.2 HBA2 HBB
13 anorectal stricture 10.2 HBA1 HBA2
14 brachydactyly type a1d 10.2 HBB HBE1
15 sepsis in premature infants 10.2 HBB HBG1
16 isolated atp synthase deficiency 10.2 HBB HBG1
17 adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency 10.2 HBB HBD
18 michelin tire baby syndrome 10.2 HBA1 HBA2 HBB
19 mental retardation-hypotonic facies syndrome, x-linked 10.2 ATRX HBA2
20 middle ear adenoma 10.2 HBB HBD
21 surfactant metabolism dysfunction, pulmonary, 3 10.2 HBA1 HBA2 HBB
22 tmem231-related joubert syndrome 10.2 HBA2 HBB
23 arrhythmogenic right ventricular dysplasia 3 10.2 HBA1 LRBA
24 hepatic infarction 10.2 HBB HBD
25 oxyphilic adenoma 10.2 HBA1 HBB HBE1
26 extrahepatic bile duct papillary adenoma 10.1 HBB HBD
27 qazi markouizos syndrome 10.1 BCS1L HBB HBE1
28 hemopericardium 10.1 HBA1 HBA2
29 thalassemia 10.1
30 intracranial structure hemangioma 10.1 HBB HBD
31 acute liver failure 10.1 HBB HBG1
32 vagus nerve neoplasm 10.1 HBB HBE1 HBG1
33 chylocele of tunica vaginalis 10.0 HBB HBD
34 mixed malaria 10.0 HBB HBD
35 brucella canis brucellosis 10.0 HBA2 HBB
36 hepatitis b 10.0 AK1 HBA2 HBB
37 costello syndrome 10.0 HBB HBD HBG1
38 fetal hemoglobin quantitative trait locus 1 10.0 HBA1 HBA2 HBB HBG1
39 hemoglobin constant spring 10.0
40 tk2-related mitochondrial dna depletion syndrome, myopathic form 9.9 HBA2 HBB HBD HBG1
41 hemosiderosis 9.9
42 alzheimer's disease 11 9.8 ATRX HBA1 HBA2 SOX8
43 endometrial adenocarcinoma 9.8 HBA1 HBB HBD HBE1 SCN2A
44 larynx sarcoma 9.8 HBA1 HBA2 HBB HBD HBG1
45 myelofibrosis 9.8
46 hemoglobin quong sze 9.8
47 t-cell large granular lymphocyte leukemia 9.8 ATRX HBA1 HBB HBD HBE1
48 meningeal melanocytoma 9.8 HBA2 HBB HBD HBE1 HBG1
49 cholelithiasis 9.7
50 myeloproliferative neoplasm 9.7

Graphical network of the top 20 diseases related to Hemoglobin H Disease, Nondeletional:



Diseases related to Hemoglobin H Disease, Nondeletional

Symptoms & Phenotypes for Hemoglobin H Disease, Nondeletional

Clinical features from OMIM:

613978

Human phenotypes related to Hemoglobin H Disease, Nondeletional:

32
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 hemolytic anemia 32 HP:0001878
4 hemoglobin h 32 HP:0011903
5 reduced alpha/beta synthesis ratio 32 HP:0011907

GenomeRNAi Phenotypes related to Hemoglobin H Disease, Nondeletional 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-104 9.91 HBG1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.91 HBE1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.91 HBG1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.91 HBA1 HBA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.91 HBG1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.91 HBE1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.91 HBG1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.91 HBG1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.91 HBA1 HBA2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.91 HBG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 HBG1 HBA1 HBA2 HBE1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.91 HBG1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.91 HBG1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.75 HBG1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 BCS1L
16 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.75 HBG1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.75 HBG1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.75 SCN2A HBG1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.75 SCN2A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.75 HBG1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.75 SCN2A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.75 ATRX BCS1L
23 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.75 HBG1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.75 SCN2A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.75 ATRX
26 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.75 HBG1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.75 HBG1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.75 SCN2A
29 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.75 HBG1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.75 BCS1L
31 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 ATRX BCS1L HBG1 SCN2A
32 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.75 HBG1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.75 SCN2A
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.75 SCN2A
35 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.75 SCN2A

Drugs & Therapeutics for Hemoglobin H Disease, Nondeletional

Interventional clinical trials:


id Name Status NCT ID Phase
1 Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study Completed NCT00661804

Search NIH Clinical Center for Hemoglobin H Disease, Nondeletional

Genetic Tests for Hemoglobin H Disease, Nondeletional

Genetic tests related to Hemoglobin H Disease, Nondeletional:

id Genetic test Affiliating Genes
1 Hemoglobin H Disease 29
2 Hemoglobin H Disease, Nondeletional 29
3 Hemoglobin H 29

Anatomical Context for Hemoglobin H Disease, Nondeletional

Publications for Hemoglobin H Disease, Nondeletional

Variations for Hemoglobin H Disease, Nondeletional

ClinVar genetic disease variations for Hemoglobin H Disease, Nondeletional:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 HBA2 NM_000517.4(HBA2): c.427T> C (p.Ter143Gln) single nucleotide variant Pathogenic rs41464951 GRCh37 Chromosome 16, 223597: 223597
2 HBA2 NM_000517.4(HBA2): c.427T> A (p.Ter143Lys) single nucleotide variant Pathogenic rs41464951 GRCh37 Chromosome 16, 223597: 223597
3 HBA2 NM_000517.4(HBA2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121909803 GRCh37 Chromosome 16, 222912: 222912
4 HBA2 NM_000517.4(HBA2): c.*92A> G single nucleotide variant Pathogenic rs63750067 GRCh37 Chromosome 16, 223691: 223691
5 HBA2 NM_000517.4(HBA2): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs41341344 GRCh37 Chromosome 16, 223000: 223000
6 HBA2 NM_000517.4(HBA2): c.429A> T (p.Ter143Tyr) single nucleotide variant Pathogenic rs41412046 GRCh37 Chromosome 16, 223599: 223599
7 HBA2 NM_000517.4(HBA2): c.314G> A (p.Cys105Tyr) single nucleotide variant Pathogenic rs41417548 GRCh37 Chromosome 16, 223484: 223484
8 HBA2 NM_000517.4(HBA2): c.301-1G> A single nucleotide variant Pathogenic rs587776827 GRCh38 Chromosome 16, 173471: 173471
9 HBA2 NM_000517.4(HBA2): c.2delT (p.Met1Argfs) deletion Pathogenic rs63750678 GRCh37 Chromosome 16, 222913: 222913
10 HBA1 NM_000558.3(HBA1): c.179G> A (p.Gly60Asp) single nucleotide variant Pathogenic rs28928878 GRCh37 Chromosome 16, 227011: 227011
11 HBA1 NM_000558.3(HBA1): c.187_189delGTG (p.Val63del) deletion Pathogenic rs35672478 GRCh37 Chromosome 16, 227019: 227021

Expression for Hemoglobin H Disease, Nondeletional

Search GEO for disease gene expression data for Hemoglobin H Disease, Nondeletional.

Pathways for Hemoglobin H Disease, Nondeletional

GO Terms for Hemoglobin H Disease, Nondeletional

Cellular components related to Hemoglobin H Disease, Nondeletional according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.55 HBA1 HBA2 HBB HBD HBE1
2 endocytic vesicle lumen GO:0071682 9.43 HBA1 HBA2 HBB
3 cytosolic small ribosomal subunit GO:0022627 9.32 HBA1 HBA2
4 haptoglobin-hemoglobin complex GO:0031838 9.13 HBA1 HBA2 HBB
5 hemoglobin complex GO:0005833 9.1 HBA1 HBA2 HBB HBD HBE1 HBG1

Biological processes related to Hemoglobin H Disease, Nondeletional according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.67 HBA1 HBA2 HBB
2 blood coagulation GO:0007596 9.67 HBB HBD HBE1 HBG1
3 cellular oxidant detoxification GO:0098869 9.61 HBA1 HBA2 HBB
4 response to hydrogen peroxide GO:0042542 9.58 HBA1 HBA2 HBB
5 bicarbonate transport GO:0015701 9.5 HBA1 HBA2 HBB
6 Sertoli cell development GO:0060009 9.48 ATRX SOX8
7 positive regulation of cell death GO:0010942 9.43 HBA1 HBA2 HBB
8 hydrogen peroxide catabolic process GO:0042744 9.33 HBA1 HBA2 HBB
9 protein heterooligomerization GO:0051291 9.26 HBA1 HBA2 HBB HBE1
10 oxygen transport GO:0015671 9.1 HBA1 HBA2 HBB HBD HBE1 HBG1
11 transport GO:0006810 10 HBA1 HBA2 HBB HBD HBE1 HBG1

Molecular functions related to Hemoglobin H Disease, Nondeletional according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.73 HBA1 HBA2 HBB HBD HBE1 HBG1
2 heme binding GO:0020037 9.63 HBA1 HBA2 HBB HBD HBE1 HBG1
3 peroxidase activity GO:0004601 9.54 HBA1 HBA2 HBB
4 haptoglobin binding GO:0031720 9.5 HBA1 HBA2 HBB
5 oxygen binding GO:0019825 9.43 HBA1 HBA2 HBB HBD HBE1 HBG1
6 oxygen transporter activity GO:0005344 9.1 HBA1 HBA2 HBB HBD HBE1 HBG1

Sources for Hemoglobin H Disease, Nondeletional

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
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48 NDF-RT
51 NINDS
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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
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