MCID: HMG032
MIFTS: 52

Hemoglobin H Disease

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

Aliases & Classifications for Hemoglobin H Disease

MalaCards integrated aliases for Hemoglobin H Disease:

Name: Hemoglobin H Disease 57 12 59 75 15 40 73
Hemoglobin H Disease, Nondeletional 57 29 13 6
Hbh 57 12 75
Hemoglobin H Disease, Deletional 57 12
Alpha-Thalassemia Intermedia 12 59
Alpha-Thalassemia, Hemoglobin H Type 57
Alpha Thalassemia, Hemoglobin H Type 12
Alpha-Thalassemia Hemoglobin H Type 75
Hemoglobin H Disease Non-Deletional 75
Hemoglobin H Disease Deletional 75
Alpha-Thalassemia 73
Hemoglobin H 29
Hbh Disease 59

Characteristics:

Orphanet epidemiological data:

59
hemoglobin h disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States); Age of onset: All ages;

Classifications:



External Ids:

OMIM 57 613978
Disease Ontology 12 DOID:0110031
ICD10 33 D56.0
Orphanet 59 ORPHA93616
UMLS via Orphanet 74 C1260396 C0002312 C3161174
ICD10 via Orphanet 34 D56.0
MeSH 44 D017085
UMLS 73 C3161174

Summaries for Hemoglobin H Disease

OMIM : 57 Hemoglobin H disease is a subtype of alpha-thalassemia (see 604131) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003). Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011). While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see 236750. (613978)

MalaCards based summary : Hemoglobin H Disease, also known as hemoglobin h disease, nondeletional, is related to hydrops fetalis and hemosiderosis. An important gene associated with Hemoglobin H Disease is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Vesicle-mediated transport and Factors involved in megakaryocyte development and platelet production. The drugs Darbepoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include liver and bone, and related phenotypes are splenomegaly and hemolytic anemia

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 Hemoglobin H disease is a type of alpha thalassemia caused by impaired production of three of the four... more...

Related Diseases for Hemoglobin H Disease

Diseases in the Hemoglobin H Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin E Disease Hemoglobin Se Disease

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 hydrops fetalis 30.5 HBA1 HBA2
2 hemosiderosis 29.8 EPO TF TFRC
3 hemochromatosis, type 1 29.5 HBB TF TFRC
4 vitamin b12 deficiency 29.5 EPO TF
5 hemoglobin e disease 29.1 HBB HBD HBE1
6 alpha-thalassemia 26.0 ATRX BCS1L EPO HBA1 HBA2 HBB
7 thalassemia 25.3 AHSP ATRX EPO HBA1 HBA2 HBB
8 beta-thalassemia 25.1 AHSP EPO HBA1 HBA2 HBB HBD
9 alpha-thalassemia myelodysplasia syndrome 11.5
10 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.8 HBA1 HBA2
11 hydrops fetalis, nonimmune 10.7 HBA1 HBA2
12 diabetes mellitus, insulin-dependent, 24 10.7 HBA1 HBA2
13 hemoglobin zurich 10.7 HBA2 HBB
14 hypoglycemic coma 10.7 HBA1 HBA2
15 type 1 diabetes mellitus 7 10.7 HBA1 HBA2
16 type 1 diabetes mellitus 11 10.7 HBA1 HBA2
17 immature cataract 10.7 HBA1 HBA2
18 hemoglobin lepore-beta-thalassemia syndrome 10.7 HBB HBD
19 hemoglobin d disease 10.6 HBB HBD
20 malignant secondary hypertension 10.6 HBB HBD
21 osgood-schlatter's disease 10.6 HBB HBD
22 fetal hemoglobin quantitative trait locus 1 10.5 HBB HBD
23 kluver-bucy syndrome 10.5 HBB HBD
24 malignant essential hypertension 10.5 HBB HBD
25 methemoglobinemia, beta-globin type 10.4 HBA1 HBA2 HBB
26 glutathione peroxidase deficiency 10.4 HBA1 HBA2 HBB
27 heinz body anemias 10.4 HBA1 HBA2 HBB
28 senile angioma 10.4 HBA1 TF
29 pleuropneumonia 10.4 HBB HBD
30 neonatal anemia 10.4 EPO HBA2
31 splenic disease 10.3 EPO HBB
32 acute erythroid leukemia 10.2 EPO HBB
33 rubeosis iridis 10.2 HBA2 HBB
34 hypochromic microcytic anemia 10.2 HBA2 HBB TF
35 angiomatous meningioma 10.1 HBA1 TF TFRC
36 pure red-cell aplasia 10.1 EPO TF
37 metal metabolism disorder 10.0 TF TFRC
38 siderosis 10.0 HBB TF TFRC
39 analbuminemia 10.0 EPO TF
40 anemia, sideroblastic, 1 10.0 HBB TFRC
41 myelofibrosis 9.9
42 diabetes mellitus 9.9
43 spherocytosis, type 2 9.8 HBB HBE1
44 sickle cell anemia 9.8 EPO HBA1 HBA2 HBB
45 folic acid deficiency anemia 9.8 EPO TF TFRC
46 iron metabolism disease 9.8 EPO TF TFRC
47 hemolytic anemia 9.8 EPO HBA1 HBA2 HBB
48 nutritional deficiency disease 9.8 EPO TF TFRC
49 iron deficiency anemia 9.8 EPO TF TFRC
50 sickle cell disease 9.8 EPO HBA2 HBB HBD

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



Diseases related to Hemoglobin H Disease

Symptoms & Phenotypes for Hemoglobin H Disease

Clinical features from OMIM:

613978

Human phenotypes related to Hemoglobin H Disease:

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

Drugs & Therapeutics for Hemoglobin H Disease

Drugs for Hemoglobin H Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
2 Hematinics Phase 2, Phase 3
3
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
4
Iron Approved Phase 2,Not Applicable 7439-89-6 23925
5 Chelating Agents Phase 2
6 Iron Chelating Agents Phase 2
7 Liver Extracts Phase 2
8 Micronutrients Phase 2,Not Applicable
9 Trace Elements Phase 2,Not Applicable
10
Menthol Approved Phase 1 2216-51-5 16666
11
Copper Approved, Investigational Not Applicable 7440-50-8 27099
12
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
13
Iodine Approved, Investigational Not Applicable 7553-56-2 807
14
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
15
Zinc Approved, Investigational Not Applicable 7440-66-6 23994
16
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
17
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
18
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
19
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
20
Nicotinamide Approved, Investigational, Nutraceutical Not Applicable 98-92-0 936
21
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 11103-57-4, 68-26-8 445354
22 cadexomer iodine Not Applicable
23 Hepcidins Not Applicable
24 Nicotinic Acids Not Applicable
25 Retinol palmitate Not Applicable
26 Vitamin B 12 Not Applicable
27 Vitamin B Complex Not Applicable
28 Vitamins Not Applicable
29 Vaccines
30 Anti-Arrhythmia Agents
31
Cobalamin Nutraceutical Not Applicable 13408-78-1 6438156
32 Folate Nutraceutical Not Applicable
33 retinol Nutraceutical Not Applicable
34 Vitamin B12 Nutraceutical Not Applicable
35 Vitamin B3 Nutraceutical Not Applicable
36 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Not yet recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
2 EPO-4-Rhesus Study Recruiting NCT03104426 Phase 2, Phase 3 Darbepoetin Alfa
3 Efficacy and Safety of Deferasirox in Non-transfusion Dependent Thalassemia Patients With Iron Overload and a One Year Open-label Extension Study Completed NCT00873041 Phase 2 deferasirox;placebo
4 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
5 In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM) Recruiting NCT02986698 Phase 1
6 Demographic, Clinical and Laboratory Characteristics of Children With Alpha Thalassemia in Northern Israel Completed NCT00971984
7 Genetics of Alpha Thalassemia in Israeli Ethnic Groups Completed NCT00159029
8 Evaluation of the Free α-hemoglobin Pool in the Red Blood Cells : Prognostic Marker and Severity Index in Thalassemic Syndromes Completed NCT02855957 Not Applicable
9 Malaria Studies in Cambodia Completed NCT00663546
10 Is Iron Deficiency the Cause of Anemia Among Women in Cambodia? Completed NCT02481375 Not Applicable
11 Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study Completed NCT00661804
12 Preventing the Spread of Malaria in Mali Completed NCT01360112
13 Screening for Alpha Thalassemia in Healthy Volunteers Recruiting NCT02692872
14 Influence of Perioperative Fluid Therapy on Hemoglobin and Methemoglobin Levels Recruiting NCT03220620
15 Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
16 Evaluation of Nutritional Status in Thalassemia Major Patients in Assiut Children Hospital Not yet recruiting NCT03161899
17 Fetal Birth Defects: Toward a Precision-based Approach Not yet recruiting NCT03412760 Not Applicable
18 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Not yet recruiting NCT02956564 Not Applicable
19 Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR Terminated NCT00143039

Search NIH Clinical Center for Hemoglobin H Disease

Genetic Tests for Hemoglobin H Disease

Genetic tests related to Hemoglobin H Disease:

# Genetic test Affiliating Genes
1 Hemoglobin H 29 HBA1 HBA2
2 Hemoglobin H Disease, Nondeletional 29

Anatomical Context for Hemoglobin H Disease

MalaCards organs/tissues related to Hemoglobin H Disease:

41
Liver, Bone

Publications for Hemoglobin H Disease

Articles related to Hemoglobin H Disease:

(show top 50) (show all 57)
# Title Authors Year
1
Elevations of Thrombotic Biomarkers in Hemoglobin H Disease. ( 29402840 )
2018
2
Unusual inclusions in hemoglobin H disease post-splenectomy. ( 29473200 )
2018
3
A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease. ( 28337528 )
2017
4
Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. ( 28060122 )
2017
5
A combination of the -I+<sup>3.7</sup>and --<sup>MEDII</sup>alleles causing hemoglobin H disease in a Brazilian patient. ( 28270355 )
2017
6
A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major I+-Globin Regulatory Element (MCS-R2) and I+0-Thalassemia. ( 28743121 )
2017
7
Alpha Thalassemia (Hemoglobin H Disease) ( 28722856 )
2017
8
Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report. ( 27347400 )
2016
9
Pregnancies Complicated by Hemoglobin H disease. ( 27799984 )
2016
10
Hemoglobin H Disease in Turkey: Experience from Eight Centers. ( 26376738 )
2016
11
Evaluation of bone mineral density in patients with hemoglobin H disease. ( 27256348 )
2016
12
Benign Cardiac Effects of Hemoglobin H Disease. ( 26820393 )
2016
13
Alpha thalassemia trait masquerading as hemoglobin H disease due to co-existing primary myelofibrosis. ( 25465234 )
2015
14
Implementation of newborn screening for hemoglobin h disease in mainland china. ( 25825565 )
2015
15
Hemoglobin H identification by high-performance liquid chromatography in confirmed hemoglobin H disease. ( 25989219 )
2015
16
Differences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and I^-thalassemia intermedia. ( 25596269 )
2015
17
Rapid and reliable preimplantation genetic diagnosis of common hemoglobin Bart's hydrops fetalis syndrome and hemoglobin H disease determinants using an enhanced single-tube decaplex polymerase chain reaction assay. ( 26043722 )
2015
18
Vitamin B12 Deficiency and Hemoglobin H Disease Early Misdiagnosed as Thrombotic Thrombocytopenic Purpura: A Series of Unfortunate Events. ( 26609455 )
2015
19
Metabolic pathways related to oxidative stress in patients with hemoglobin h disease and iron overload. ( 24577940 )
2014
20
Comparative plasma protein profiling of hemoglobin H disease. ( 25024506 )
2014
21
A novel fusion gene and a common I+(0)-thalassemia deletion cause hemoglobin H disease in a Chinese family. ( 23481460 )
2013
22
Gigantic splenomegaly in a 27-year-old male of South-East Asian descent with concurrent diagnosis of myeloproliferative neoplasm and hemoglobin H disease. ( 23672282 )
2013
23
Hemoglobin H disease due to a de novo mutation at the I+2-globin gene and an inherited common I+-thalassemia deletion found in a Chinese boy. ( 20691621 )
2010
24
Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients. ( 20639625 )
2010
25
A report of 8 cases with hemoglobin H disease in an Iranian family. ( 20670167 )
2010
26
Detection of uncommon deletions in alpha-thalassemia using the pcr-reverse dot-blot method for prenatal diagnosis of nondeletional hemoglobin H disease. ( 20516677 )
2010
27
Outcomes of pregnancies affected by hemoglobin H disease. ( 19027901 )
2009
28
Diversity in clinical presentation of hemoglobin H disease induced by the SEA deletion and the hemoglobin Quong Sze. ( 19259674 )
2009
29
Organ-specific hemosiderosis and functional correlation in Chinese patients with thalassemia intermedia and hemoglobin H disease. ( 19165482 )
2009
30
Hemoglobin H disease induced by the common SEA deletion and the rare hemoglobin Quong Sze in a Thai female: longitudinal clinical course, molecular characterization, and development of a PCR/RFLP-based detection method. ( 17503046 )
2007
31
Hemosiderosis and diabetes mellitus in an untransfused patient with hemoglobin H disease and H63D homozygous hereditary hemochromatosis. ( 17067714 )
2007
32
Development of severe anemia during fever episodes in patients with hemoglobin E trait and hemoglobin H disease combinations. ( 16679924 )
2006
33
Alpha-2-globin gene polyadenylation (AATAAA--&amp;gt;AATAAG) mutation in hemoglobin H disease among Kuwaitis. ( 16103716 )
2005
34
Hyperbilirubinemia and cholelithiasis in Chinese patients with hemoglobin H disease. ( 16044312 )
2005
35
[Clinical phenotype genotype correlation in children with hemoglobin H disease in Zhuhai area of China]. ( 15482674 )
2004
36
Atypical hemoglobin H disease in a Thai patient resulting from a combination of alpha-thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity. ( 11422410 )
2001
37
Hemosiderosis with diabetes mellitus in untransfused Hemoglobin H disease. ( 9462550 )
1998
38
Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease. ( 9856674 )
1998
39
Inactivation of mouse alpha-globin gene by homologous recombination: mouse model of hemoglobin H disease. ( 8781443 )
1996
40
A new deletional alpha-thalassemia detected in Yemenites with hemoglobin H disease. ( 8296789 )
1994
41
Identification of a novel termination codon mutation (TAA--&amp;gt;TAT, Term--&amp;gt;Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease. ( 8193381 )
1994
42
A monoclonal antibody-linked immunoassay for hemoglobin H disease. ( 1643159 )
1992
43
Erythrocyte glucose-6-phosphate dehydrogenase and pyruvate kinase activities in hemoglobin H disease. ( 1523481 )
1992
44
Iron overload in Chinese patients with hemoglobin H disease. ( 2368695 )
1990
45
Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon. ( 2831226 )
1988
46
Association of hemoglobin H disease with Hb J-Iran (beta 77 His----Asp): impact on subunit assembly. ( 3676514 )
1987
47
Hemoglobin H disease with hemoglobin Constant Spring in a child of Laotian extraction. ( 3764529 )
1986
48
Acquired hemoglobin H disease in a case of refractory anemia with excess of blasts (RAEB) evolving into acute nonlymphoid leukemia. ( 6433631 )
1984
49
Clinical features and molecular analysis of acquired hemoglobin H disease. ( 6881169 )
1983
50
Zinc and copper status in hemoglobin H disease and beta-thalassemia/hemoglobin E disease. ( 6817576 )
1982

Variations for Hemoglobin H Disease

ClinVar genetic disease variations for Hemoglobin H Disease:

6
(show all 22)
# 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> C (p.Ter143Gln) single nucleotide variant Pathogenic rs41464951 GRCh38 Chromosome 16, 173598: 173598
3 HBA2 NM_000517.4(HBA2): c.427T> A (p.Ter143Lys) single nucleotide variant Pathogenic rs41464951 GRCh37 Chromosome 16, 223597: 223597
4 HBA2 NM_000517.4(HBA2): c.427T> A (p.Ter143Lys) single nucleotide variant Pathogenic rs41464951 GRCh38 Chromosome 16, 173598: 173598
5 HBA2 NM_000517.4(HBA2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121909803 GRCh37 Chromosome 16, 222912: 222912
6 HBA2 NM_000517.4(HBA2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121909803 GRCh38 Chromosome 16, 172913: 172913
7 HBA2 NM_000517.4(HBA2): c.*92A> G single nucleotide variant Pathogenic/Likely pathogenic rs63750067 GRCh37 Chromosome 16, 223691: 223691
8 HBA2 NM_000517.4(HBA2): c.*92A> G single nucleotide variant Pathogenic/Likely pathogenic rs63750067 GRCh38 Chromosome 16, 173692: 173692
9 HBA2 NM_000517.4(HBA2): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs41341344 GRCh37 Chromosome 16, 223000: 223000
10 HBA2 NM_000517.4(HBA2): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs41341344 GRCh38 Chromosome 16, 173001: 173001
11 HBA2 NM_000517.4(HBA2): c.429A> T (p.Ter143Tyr) single nucleotide variant Likely pathogenic rs41412046 GRCh37 Chromosome 16, 223599: 223599
12 HBA2 NM_000517.4(HBA2): c.429A> T (p.Ter143Tyr) single nucleotide variant Likely pathogenic rs41412046 GRCh38 Chromosome 16, 173600: 173600
13 HBA2 NM_000517.4(HBA2): c.314G> A (p.Cys105Tyr) single nucleotide variant Pathogenic rs41417548 GRCh37 Chromosome 16, 223484: 223484
14 HBA2 NM_000517.4(HBA2): c.314G> A (p.Cys105Tyr) single nucleotide variant Pathogenic rs41417548 GRCh38 Chromosome 16, 173485: 173485
15 HBA2 NM_000517.4(HBA2): c.301-1G> A single nucleotide variant Pathogenic rs587776827 GRCh38 Chromosome 16, 173471: 173471
16 HBA2 NM_000517.4(HBA2): c.301-1G> A single nucleotide variant Pathogenic rs587776827 GRCh37 Chromosome 16, 223470: 223470
17 HBA2 NM_000517.4(HBA2): c.2delT (p.Met1Argfs) deletion Pathogenic rs63750678 GRCh37 Chromosome 16, 222913: 222913
18 HBA2 NM_000517.4(HBA2): c.2delT (p.Met1Argfs) deletion Pathogenic rs63750678 GRCh38 Chromosome 16, 172914: 172914
19 HBA1 NM_000558.3(HBA1): c.179G> A (p.Gly60Asp) single nucleotide variant Pathogenic rs28928878 GRCh37 Chromosome 16, 227011: 227011
20 HBA1 NM_000558.3(HBA1): c.179G> A (p.Gly60Asp) single nucleotide variant Pathogenic rs28928878 GRCh38 Chromosome 16, 177012: 177012
21 HBA1 NM_000558.3(HBA1): c.187_189delGTG (p.Val63del) deletion Pathogenic rs35672478 GRCh37 Chromosome 16, 227019: 227021
22 HBA1 NM_000558.3(HBA1): c.187_189delGTG (p.Val63del) deletion Pathogenic rs35672478 GRCh38 Chromosome 16, 177020: 177022

Expression for Hemoglobin H Disease

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

Pathways for Hemoglobin H Disease

GO Terms for Hemoglobin H Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.85 EPO HBA1 HBA2 HBB TF TFRC
2 blood microparticle GO:0072562 9.5 HBA1 HBA2 HBB HBD HBE1 TF
3 cytosolic small ribosomal subunit GO:0022627 9.43 HBA1 HBA2
4 endocytic vesicle lumen GO:0071682 9.43 HBA1 HBA2 HBB
5 clathrin-coated vesicle membrane GO:0030665 9.4 TF TFRC
6 haptoglobin-hemoglobin complex GO:0031838 9.33 HBA1 HBA2 HBB
7 HFE-transferrin receptor complex GO:1990712 9.32 TF TFRC
8 hemoglobin complex GO:0005833 9.1 AHSP HBA1 HBA2 HBB HBD HBE1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.67 HBA1 HBA2 HBB TFRC
2 blood coagulation GO:0007596 9.63 HBB HBD HBE1
3 cellular oxidant detoxification GO:0098869 9.61 HBA1 HBA2 HBB
4 response to hydrogen peroxide GO:0042542 9.58 HBA1 HBA2 HBB
5 positive regulation of cell death GO:0010942 9.5 HBA1 HBA2 HBB
6 erythrocyte differentiation GO:0030218 9.49 AHSP EPO
7 transferrin transport GO:0033572 9.48 TF TFRC
8 bicarbonate transport GO:0015701 9.43 HBA1 HBA2 HBB
9 hydrogen peroxide catabolic process GO:0042744 9.33 HBA1 HBA2 HBB
10 protein heterooligomerization GO:0051291 9.26 HBA1 HBA2 HBB HBE1
11 oxygen transport GO:0015671 9.02 HBA1 HBA2 HBB HBD HBE1

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.72 HBA1 HBA2 HBB HBD HBE1
2 heme binding GO:0020037 9.65 HBA1 HBA2 HBB HBD HBE1
3 peroxidase activity GO:0004601 9.54 HBA1 HBA2 HBB
4 hemoglobin binding GO:0030492 9.4 AHSP HBB
5 oxygen binding GO:0019825 9.35 HBA1 HBA2 HBB HBD HBE1
6 haptoglobin binding GO:0031720 9.33 HBA1 HBA2 HBB
7 oxygen carrier activity GO:0005344 9.02 HBA1 HBA2 HBB HBD HBE1
8 protein binding GO:0005515 10.21 AHSP ATRX BCS1L EPO HBA1 HBA2

Sources for Hemoglobin H Disease

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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