HBH
MCID: HMG032
MIFTS: 51

Hemoglobin H Disease (HBH)

Categories: Blood diseases, Endocrine diseases, Genetic 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
Hemoglobin H Disease, Deletional and Nondeletional 57
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

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 alpha-thalassemia/mental retardation syndrome, chromosome 16-related and hemosiderosis. An important gene associated with Hemoglobin H Disease is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ 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 bone, heart and myeloid, and related phenotypes are splenomegaly and hepatomegaly

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 : 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.

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 103)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 32.6 HBA1 HBA2
2 hemosiderosis 30.4 EPO TF TFRC
3 glutathione peroxidase deficiency 30.3 HBA1 HBA2 HBB
4 hydrops fetalis 30.1 HBA1 HBA2
5 hemoglobin e disease 30.0 HBB HBD HBE1
6 splenomegaly 29.9 EPO HBA2
7 vitamin b12 deficiency 29.8 EPO TF
8 iron metabolism disease 29.7 EPO TF TFRC
9 myelodysplastic syndrome 29.5 ATRX EPO TF TFRC
10 thalassemia 29.4 AHSP ATRX EPO HBA1 HBA2 HBB
11 hemolytic anemia 29.4 EPO G6PD HBA1 HBA2 HBB HBG2
12 alpha-thalassemia 29.2 ATRX EPO G6PD HBA1 HBA2 HBB
13 beta-thalassemia 28.3 AHSP EPO G6PD HBA1 HBA2 HBB
14 alpha-thalassemia myelodysplasia syndrome 11.9
15 alpha-thalassemia/mental retardation syndrome, x-linked 11.2
16 diabetes mellitus, insulin-dependent, 24 10.3 HBA1 HBA2
17 hydrops fetalis, nonimmune 10.2 HBA1 HBA2
18 immune hydrops fetalis 10.2 HBA1 HBA2
19 hemoglobin zurich 10.2 HBA2 HBB
20 hypoglycemic coma 10.2 HBA1 HBA2
21 erythrocytosis, familial, 7 10.2 HBA1 HBA2
22 type 1 diabetes mellitus 7 10.2 HBA1 HBA2
23 type 1 diabetes mellitus 11 10.2 HBA1 HBA2
24 immature cataract 10.2 HBA1 HBA2
25 hemoglobin lepore-beta-thalassemia syndrome 10.2 HBB HBD
26 hemoglobin d disease 10.2 HBB HBD
27 malignant secondary hypertension 10.2 HBB HBD
28 osgood-schlatter's disease 10.2 HBB HBD
29 kluver-bucy syndrome 10.2 HBB HBD
30 malignant essential hypertension 10.2 HBB HBD
31 neonatal anemia 10.2 EPO HBA2
32 methemoglobinemia, beta-globin type 10.2 HBA1 HBA2 HBB
33 heinz body anemias 10.2 HBA1 HBA2 HBB
34 blind loop syndrome 10.2 HBB HBD
35 diabetic autonomic neuropathy 10.2 EPO HBA2
36 senile angioma 10.1 HBA1 TF
37 erythroleukemia, familial 10.1 EPO HBB
38 pleuropneumonia 10.1 HBB HBD
39 splenic disease 10.1 EPO HBB
40 myelofibrosis 10.1
41 acquired polycythemia 10.1 EPO TF
42 rubeosis iridis 10.1 HBA2 HBB
43 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.1 HBB HBG2
44 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.1 HBB HBG2
45 sea-blue histiocyte disease 10.1 HBB HBE1
46 hypochromic microcytic anemia 10.1 HBA2 HBB TF
47 plethora of newborn 10.1 EPO TF
48 spherocytosis, type 2 10.1 HBB HBE1
49 pure red-cell aplasia 10.1 EPO TF
50 angiomatous meningioma 10.1 HBA1 TF TFRC

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 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 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 EPO G6PD HBD HBG2

Drugs & Therapeutics for Hemoglobin H Disease

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

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

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) 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 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Unknown status NCT02956564 Not Applicable
7 Demographic, Clinical and Laboratory Characteristics of Children With Alpha Thalassemia in Northern Israel Completed NCT00971984
8 Genetics of Alpha Thalassemia in Israeli Ethnic Groups Completed NCT00159029
9 Evaluation of the Free α-hemoglobin Pool in the Red Blood Cells : Prognostic Marker and Severity Index in Thalassemic Syndromes Completed NCT02855957 Not Applicable
10 Malaria Studies in Cambodia Completed NCT00663546
11 Is Iron Deficiency the Cause of Anemia Among Women in Cambodia? Completed NCT02481375 Not Applicable
12 Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study Completed NCT00661804
13 Preventing the Spread of Malaria in Mali Completed NCT01360112
14 Screening for Alpha Thalassemia in Healthy Volunteers Recruiting NCT02692872
15 Influence of Perioperative Fluid Therapy on Hemoglobin and Methemoglobin Levels Recruiting NCT03220620
16 A Retrospective Study on the Effect of HBA or HBB Genetic Defects on Early Embryonic Development Recruiting NCT03687567
17 Fetal Birth Defects: Toward a Precision-based Approach Recruiting NCT03412760 Not Applicable
18 Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
19 Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
20 Evaluation of Nutritional Status in Thalassemia Major Patients in Assiut Children Hospital Not yet recruiting NCT03161899
21 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
Bone, Heart, Myeloid, Bone Marrow

Publications for Hemoglobin H Disease

Articles related to Hemoglobin H Disease:

(show top 50) (show all 141)
# 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
Clinical Features and Genotypes of Patients with Hemoglobin H Disease in Taiwan. ( 30295867 )
2018
4
A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease. ( 28337528 )
2017
5
Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. ( 28060122 )
2017
6
A combination of the -I+<sup>3.7</sup>and --<sup>MEDII</sup>alleles causing hemoglobin H disease in a Brazilian patient. ( 28270355 )
2017
7
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
8
Alpha Thalassemia (Hemoglobin H Disease) ( 28722856 )
2017
9
Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report. ( 27347400 )
2016
10
Pregnancies Complicated by Hemoglobin H disease. ( 27799984 )
2016
11
Hemoglobin H Disease in Turkey: Experience from Eight Centers. ( 26376738 )
2016
12
Evaluation of bone mineral density in patients with hemoglobin H disease. ( 27256348 )
2016
13
Benign Cardiac Effects of Hemoglobin H Disease. ( 26820393 )
2016
14
Alpha thalassemia trait masquerading as hemoglobin H disease due to co-existing primary myelofibrosis. ( 25465234 )
2015
15
Implementation of newborn screening for hemoglobin h disease in mainland china. ( 25825565 )
2015
16
Hemoglobin H identification by high-performance liquid chromatography in confirmed hemoglobin H disease. ( 25989219 )
2015
17
Differences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and I^-thalassemia intermedia. ( 25596269 )
2015
18
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
19
Vitamin B12 Deficiency and Hemoglobin H Disease Early Misdiagnosed as Thrombotic Thrombocytopenic Purpura: A Series of Unfortunate Events. ( 26609455 )
2015
20
Metabolic pathways related to oxidative stress in patients with hemoglobin h disease and iron overload. ( 24577940 )
2014
21
Comparative plasma protein profiling of hemoglobin H disease. ( 25024506 )
2014
22
A novel fusion gene and a common I+(0)-thalassemia deletion cause hemoglobin H disease in a Chinese family. ( 23481460 )
2013
23
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
24
Pulmonary hypertension risk in patients with hemoglobin h disease: low incidence and absence of correlation with splenectomy. ( 23711936 )
2013
25
An unexpectedly bizarre blood film in hemoglobin H disease. ( 22573537 )
2012
26
Effect of Yisui Shengxue Granule () on the oxidative damage of erythrocytes from patients with hemoglobin H disease. ( 22936320 )
2012
27
Hemoglobin Pyrgos with hemoglobin H disease: new triple heterozygosity. ( 23431835 )
2012
28
Prenatal control of hemoglobin H disease: is it possible? ( 21083358 )
2011
29
Molecular and hematological characterization of hemoglobin H disease in the Bengali population of Kolkata, India. ( 21117952 )
2011
30
Weighing the evidence for newborn screening for Hemoglobin H disease. ( 21167500 )
2011
31
Heterogeneity of hemoglobin H disease in childhood. ( 21345100 )
2011
32
A 6-year-old girl with hemoglobin H disease. ( 21551967 )
2011
33
Heterogeneity of hemoglobin h disease in childhood. ( 21612484 )
2011
34
Heterogeneity of hemoglobin H disease in childhood. ( 21612485 )
2011
35
A rare case of coinheritance of Hemoglobin H disease and sickle cell trait combined with severe iron deficiency. ( 22593821 )
2011
36
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
37
Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients. ( 20639625 )
2010
38
A report of 8 cases with hemoglobin H disease in an Iranian family. ( 20670167 )
2010
39
Detection of uncommon deletions in alpha-thalassemia using the pcr-reverse dot-blot method for prenatal diagnosis of nondeletional hemoglobin H disease. ( 20516677 )
2010
40
Molecular diversity of hemoglobin H disease in India. ( 20154289 )
2010
41
Acquired hemoglobin h disease associated with Down syndrome. ( 20628319 )
2010
42
Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease. ( 20864588 )
2010
43
High performance liquid chromatography as an aid in picking up hemoglobin H disease. ( 21045450 )
2010
44
Outcomes of pregnancies affected by hemoglobin H disease. ( 19027901 )
2009
45
Diversity in clinical presentation of hemoglobin H disease induced by the SEA deletion and the hemoglobin Quong Sze. ( 19259674 )
2009
46
Organ-specific hemosiderosis and functional correlation in Chinese patients with thalassemia intermedia and hemoglobin H disease. ( 19165482 )
2009
47
Erythropoietin for hemoglobin H disease. ( 18654779 )
2009
48
Diversity in clinical phenotype of nondeletional hemoglobin H disease with the same genetic defect. ( 19935432 )
2009
49
Brilliant cresyl blue staining for screening hemoglobin H disease: Reticulocyte smear. ( 27265113 )
2009
50
Hemoglobin H disease in Muscat, Oman - A 5 year study. ( 22400100 )
2008

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 9.76 HBA1 HBA2 HBB HBD HBE1 HBG2
3 hemoglobin complex GO:0005833 9.5 AHSP HBA1 HBA2 HBB HBD HBE1
4 endocytic vesicle lumen GO:0071682 9.43 HBA1 HBA2 HBB
5 HFE-transferrin receptor complex GO:1990712 9.32 TF TFRC
6 haptoglobin-hemoglobin complex GO:0031838 9.1 HBA1 HBA2 HBB HBD HBE1 HBG2

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 9.73 HBA1 HBA2 HBB TFRC
2 cellular oxidant detoxification GO:0098869 9.73 HBA1 HBA2 HBB HBD HBE1 HBG2
3 blood coagulation GO:0007596 9.71 HBB HBD HBE1 HBG2
4 response to hydrogen peroxide GO:0042542 9.63 HBA1 HBA2 HBB
5 protein heterooligomerization GO:0051291 9.63 HBA1 HBA2 HBB HBD HBE1 HBG2
6 positive regulation of cell death GO:0010942 9.54 HBA1 HBA2 HBB
7 bicarbonate transport GO:0015701 9.5 HBA1 HBA2 HBB
8 transferrin transport GO:0033572 9.49 TF TFRC
9 erythrocyte maturation GO:0043249 9.48 EPO G6PD
10 hydrogen peroxide catabolic process GO:0042744 9.43 HBA1 HBA2 HBB HBD HBE1 HBG2
11 oxygen transport GO:0015671 9.1 HBA1 HBA2 HBB HBD HBE1 HBG2

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.85 HBA1 HBA2 HBB HBD HBE1 HBG2
2 oxygen binding GO:0019825 9.8 HBA1 HBA2 HBB HBD HBE1 HBG2
3 peroxidase activity GO:0004601 9.73 HBA1 HBA2 HBB HBD HBE1 HBG2
4 haptoglobin binding GO:0031720 9.63 HBA1 HBA2 HBB HBD HBE1 HBG2
5 hemoglobin alpha binding GO:0031721 9.58 HBB HBD HBE1
6 hemoglobin binding GO:0030492 9.46 AHSP HBB
7 organic acid binding GO:0043177 9.43 HBA1 HBA2 HBB HBD HBE1 HBG2
8 oxygen carrier activity GO:0005344 9.1 HBA1 HBA2 HBB HBD HBE1 HBG2
9 protein binding GO:0005515 10.25 AHSP ATRX BCS1L EPO G6PD HBA1
10 metal ion binding GO:0046872 10.08 ATRX HBA1 HBA2 HBB HBD HBE1

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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