HBH
MCID: HMG032
MIFTS: 53

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 58 12 60 76 15 41 74
Hemoglobin H Disease, Nondeletional 58 30 13 6
Hbh 58 12 76
Hemoglobin H Disease, Deletional 58 12
Alpha-Thalassemia Intermedia 12 60
Hemoglobin H Disease, Deletional and Nondeletional 58
Alpha-Thalassemia, Hemoglobin H Type 58
Alpha Thalassemia, Hemoglobin H Type 12
Alpha-Thalassemia Hemoglobin H Type 76
Hemoglobin H Disease Non-Deletional 76
Hemoglobin H Disease Deletional 76
Alpha-Thalassemia 74
Hemoglobin H 30
Hbh Disease 60

Characteristics:

Orphanet epidemiological data:

60
hemoglobin h disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States); Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:0110031
OMIM 58 613978
MeSH 45 D017085
ICD10 34 D56.0
ICD10 via Orphanet 35 D56.0
UMLS via Orphanet 75 C0002312 C1260396 C3161174
Orphanet 60 ORPHA93616

Summaries for Hemoglobin H Disease

OMIM : 58 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 glutathione peroxidase deficiency. 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 myeloid, bone and liver, 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 : 76 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 : 77 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 32.9 HBA1 HBA2
2 glutathione peroxidase deficiency 30.4 HBA1 HBA2 HBB
3 hydrops fetalis 30.3 HBA1 HBA2
4 hemosiderosis 30.3 EPO TF TFRC
5 hemoglobin e disease 30.2 HBB HBD HBE1
6 splenomegaly 30.0 EPO HBA2
7 vitamin b12 deficiency 29.7 EPO TF
8 iron metabolism disease 29.6 EPO TF TFRC
9 myelodysplastic syndrome 29.3 ATRX EPO TF TFRC
10 hemolytic anemia 29.1 EPO G6PD HBA1 HBA2 HBB HBG2
11 thalassemia 28.6 AHSP ATRX EPO HBA1 HBA2 HBB
12 alpha-thalassemia 28.5 ATRX EPO G6PD HBA1 HBA2 HBB
13 beta-thalassemia 27.6 AHSP EPO G6PD HBA1 HBA2 HBB
14 alpha-thalassemia myelodysplasia syndrome 11.7
15 alpha-thalassemia/mental retardation syndrome, x-linked 11.2
16 diabetes mellitus, insulin-dependent, 24 10.4 HBA1 HBA2
17 hydrops fetalis, nonimmune 10.4 HBA1 HBA2
18 hemoglobin zurich 10.4 HBA2 HBB
19 hypoglycemic coma 10.4 HBA1 HBA2
20 erythrocytosis, familial, 7 10.4 HBA1 HBA2
21 type 1 diabetes mellitus 7 10.4 HBA1 HBA2
22 type 1 diabetes mellitus 11 10.4 HBA1 HBA2
23 immature cataract 10.4 HBA1 HBA2
24 hemoglobin lepore-beta-thalassemia syndrome 10.3 HBB HBD
25 hemoglobin d disease 10.3 HBB HBD
26 malignant secondary hypertension 10.3 HBB HBD
27 osgood-schlatter's disease 10.3 HBB HBD
28 kluver-bucy syndrome 10.3 HBB HBD
29 malignant essential hypertension 10.3 HBB HBD
30 methemoglobinemia, beta-globin type 10.3 HBA1 HBA2 HBB
31 heinz body anemias 10.2 HBA1 HBA2 HBB
32 blind loop syndrome 10.2 HBB HBD
33 neonatal anemia 10.2 EPO HBA2
34 pleuropneumonia 10.2 HBB HBD
35 diabetic autonomic neuropathy 10.2 EPO HBA2
36 erythroleukemia, familial 10.2 EPO HBB
37 senile angioma 10.2 HBA1 TF
38 splenic disease 10.2 EPO HBB
39 rubeosis iridis 10.2 HBA2 HBB
40 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.2 HBB HBG2
41 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.2 HBB HBG2
42 sea-blue histiocyte disease 10.1 HBB HBE1
43 myelofibrosis 10.1
44 acquired polycythemia 10.1 EPO TF
45 hypochromic microcytic anemia 10.1 HBA2 HBB TF
46 acquired methemoglobinemia 10.1 G6PD HBG2
47 spherocytosis, type 2 10.1 HBB HBE1
48 congenital methemoglobinemia 10.1 G6PD HBG2
49 leukemia 10.1
50 hemoglobin c disease 10.1 HBB HBD HBE1

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



Diseases related to Hemoglobin H Disease

Symptoms & Phenotypes for Hemoglobin H Disease

Human phenotypes related to Hemoglobin H Disease:

33
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 hemolytic anemia 33 HP:0001878
4 hbh hemoglobin 33 HP:0011903
5 reduced alpha/beta synthesis ratio 33 HP:0011907

Clinical features from OMIM:

613978

GenomeRNAi Phenotypes related to Hemoglobin H Disease according to GeneCards Suite gene sharing:

27
# 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 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 209810-58-2, 11096-26-7
2 Hematinics Phase 2, Phase 3
3
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
4
Iron Approved, Experimental Phase 2,Not Applicable 7439-89-6, 15438-31-0 27284 23925
5
Hydroxyurea Approved Phase 2 127-07-1 3657
6 Trace Elements Phase 2,Not Applicable
7 Iron Chelating Agents Phase 2
8 Liver Extracts Phase 2
9 Micronutrients Phase 2,Not Applicable
10 Chelating Agents Phase 2
11 Nutrients Phase 2,Not Applicable
12 Nucleic Acid Synthesis Inhibitors Phase 2
13
Iodine Approved, Investigational Not Applicable 7553-56-2 807
14
Zinc Approved, Investigational Not Applicable 7440-66-6 32051
15
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
16
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
17
Copper Approved, Investigational Not Applicable 7440-50-8 27099
18
leucovorin Approved Not Applicable 58-05-9 143 6006
19
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
20
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
21
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
22
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
23
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
24
Cobalamin Experimental Not Applicable 13408-78-1 6857388
25 Vitamin B Complex Not Applicable
26 Nicotinic Acids Not Applicable
27 Vitamin B12 Not Applicable
28 Hepcidins Not Applicable
29 retinol Not Applicable
30 Folate Not Applicable
31 Vitamin B3 Not Applicable
32 Vitamins Not Applicable
33 Vitamin B9 Not Applicable
34 cadexomer iodine Not Applicable
35 Retinol palmitate Not Applicable
36 Vitamin B 12 Not Applicable
37 Vaccines
38 Anti-Arrhythmia Agents

Interventional clinical trials:

(show all 24)
# 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 Stroke Prevention With Hydroxyurea Enabled Through Research and Education (SPHERE) Recruiting NCT03948867 Phase 2 Hydroxyurea
5 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
6 In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM) Recruiting NCT02986698 Phase 1
7 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Unknown status NCT02956564 Not Applicable
8 Demographic, Clinical and Laboratory Characteristics of Children With Alpha Thalassemia in Northern Israel Completed NCT00971984
9 Genetics of Alpha Thalassemia in Israeli Ethnic Groups Completed NCT00159029
10 Evaluation of the Free α-hemoglobin Pool in the Red Blood Cells : Prognostic Marker and Severity Index in Thalassemic Syndromes Completed NCT02855957 Not Applicable
11 Malaria Studies in Cambodia Completed NCT00663546
12 Is Iron Deficiency the Cause of Anemia Among Women in Cambodia? Completed NCT02481375 Not Applicable
13 Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study Completed NCT00661804
14 Preventing the Spread of Malaria in Mali Completed NCT01360112
15 Screening for Alpha Thalassemia in Healthy Volunteers Recruiting NCT02692872
16 Collection of Human Biospecimens for Basic and Clinical Research Into Alpha Globin Variants Recruiting NCT03937817
17 Influence of Perioperative Fluid Therapy on Hemoglobin and Methemoglobin Levels Recruiting NCT03220620
18 A Retrospective Study on the Effect of HBA or HBB Genetic Defects on Early Embryonic Development Recruiting NCT03687567
19 Whole Exome Sequencing and Whole Genome Sequencing for Non-immune Fetal/Neonatal Hydrops Recruiting NCT03911531
20 Hydrops: Diagnosing & Redefining Outcomes With Precision Study Recruiting NCT03412760 Not Applicable
21 Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
22 Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
23 Evaluation of Nutritional Status in Thalassemia Major Patients in Assiut Children Hospital Not yet recruiting NCT03161899
24 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 30 HBA1 HBA2
2 Hemoglobin H Disease, Nondeletional 30

Anatomical Context for Hemoglobin H Disease

MalaCards organs/tissues related to Hemoglobin H Disease:

42
Myeloid, Bone, Liver, Bone Marrow

Publications for Hemoglobin H Disease

Articles related to Hemoglobin H Disease:

(show top 50) (show all 159)
# Title Authors Year
1
Clinical Features and Genotypes of Patients with Hemoglobin H Disease in Taiwan. ( 30295867 )
2019
2
Elevations of Thrombotic Biomarkers in Hemoglobin H Disease. ( 29402840 )
2018
3
Unusual inclusions in hemoglobin H disease post-splenectomy. ( 29473200 )
2018
4
A Phenotypically Unusual Hemoglobin H Disease Resulting from a Rare α-Globin Genotype (-SEA/-α27.6). ( 30610050 )
2018
5
Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. ( 28060122 )
2017
6
A combination of the -α3.7 and --MEDII alleles causing hemoglobin H disease in a Brazilian patient. ( 28270355 )
2017
7
A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease. ( 28337528 )
2017
8
A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major α-Globin Regulatory Element (MCS-R2) and α0-Thalassemia. ( 28743121 )
2017
9
A Number of Cases in Iran Presenting with Coinheritance of Hemoglobin-H Disease and Beta-Thalassemia Minor. ( 27535574 )
2016
10
Hemoglobin H Disease in Turkey: Experience from Eight Centers. ( 26376738 )
2016
11
Benign Cardiac Effects of Hemoglobin H Disease. ( 26820393 )
2016
12
Evaluation of bone mineral density in patients with hemoglobin H disease. ( 27256348 )
2016
13
Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report. ( 27347400 )
2016
14
Pregnancies Complicated by Hemoglobin H disease. ( 27799984 )
2016
15
Alpha thalassemia trait masquerading as hemoglobin H disease due to co-existing primary myelofibrosis. ( 25465234 )
2015
16
Differences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and β-thalassemia intermedia. ( 25596269 )
2015
17
Implementation of newborn screening for hemoglobin h disease in mainland china. ( 25825565 )
2015
18
Hemoglobin H identification by high-performance liquid chromatography in confirmed hemoglobin H disease. ( 25989219 )
2015
19
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
20
Vitamin B12 Deficiency and Hemoglobin H Disease Early Misdiagnosed as Thrombotic Thrombocytopenic Purpura: A Series of Unfortunate Events. ( 26609455 )
2015
21
Metabolic pathways related to oxidative stress in patients with hemoglobin h disease and iron overload. ( 24577940 )
2014
22
Comparative plasma protein profiling of hemoglobin H disease. ( 25024506 )
2014
23
A novel fusion gene and a common α(0)-thalassemia deletion cause hemoglobin H disease in a Chinese family. ( 23481460 )
2013
24
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
25
Pulmonary hypertension risk in patients with hemoglobin h disease: low incidence and absence of correlation with splenectomy. ( 23711936 )
2013
26
An unexpectedly bizarre blood film in hemoglobin H disease. ( 22573537 )
2012
27
Effect of Yisui Shengxue Granule () on the oxidative damage of erythrocytes from patients with hemoglobin H disease. ( 22936320 )
2012
28
Hemoglobin Pyrgos with hemoglobin H disease: new triple heterozygosity. ( 23431835 )
2012
29
Prenatal control of hemoglobin H disease: is it possible? ( 21083358 )
2011
30
Molecular and hematological characterization of hemoglobin H disease in the Bengali population of Kolkata, India. ( 21117952 )
2011
31
Weighing the evidence for newborn screening for Hemoglobin H disease. ( 21167500 )
2011
32
Heterogeneity of hemoglobin H disease in childhood. ( 21345100 )
2011
33
A 6-year-old girl with hemoglobin H disease. ( 21551967 )
2011
34
Heterogeneity of hemoglobin h disease in childhood. ( 21612484 )
2011
35
Heterogeneity of hemoglobin H disease in childhood. ( 21612485 )
2011
36
A rare case of coinheritance of Hemoglobin H disease and sickle cell trait combined with severe iron deficiency. ( 22593821 )
2011
37
Detection of uncommon deletions in alpha-thalassemia using the pcr-reverse dot-blot method for prenatal diagnosis of nondeletional hemoglobin H disease. ( 20516677 )
2010
38
Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy. ( 20691621 )
2010
39
Molecular diversity of hemoglobin H disease in India. ( 20154289 )
2010
40
Acquired hemoglobin h disease associated with Down syndrome. ( 20628319 )
2010
41
Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients. ( 20639625 )
2010
42
A report of 8 cases with hemoglobin H disease in an Iranian family. ( 20670167 )
2010
43
Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease. ( 20864588 )
2010
44
High performance liquid chromatography as an aid in picking up hemoglobin H disease. ( 21045450 )
2010
45
Diversity in clinical presentation of hemoglobin H disease induced by the SEA deletion and the hemoglobin Quong Sze. ( 19259674 )
2009
46
Diversity in clinical phenotype of nondeletional hemoglobin H disease with the same genetic defect. ( 19935432 )
2009
47
Erythropoietin for hemoglobin H disease. ( 18654779 )
2009
48
Outcomes of pregnancies affected by hemoglobin H disease. ( 19027901 )
2009
49
Organ-specific hemosiderosis and functional correlation in Chinese patients with thalassemia intermedia and hemoglobin H disease. ( 19165482 )
2009
50
Brilliant cresyl blue staining for screening hemoglobin H disease: Reticulocyte smear. ( 27265113 )
2009

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_000517.6(HBA2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121909803 GRCh37 Chromosome 16, 222912: 222912
6 HBA2 NM_000517.6(HBA2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121909803 GRCh38 Chromosome 16, 172913: 172913
7 HBA2 NM_000517.6(HBA2): c.*92A> G single nucleotide variant Pathogenic/Likely pathogenic rs63750067 GRCh37 Chromosome 16, 223691: 223691
8 HBA2 NM_000517.6(HBA2): c.*92A> G single nucleotide variant Pathogenic/Likely pathogenic rs63750067 GRCh38 Chromosome 16, 173692: 173692
9 HBA2 NM_000517.6(HBA2): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs41341344 GRCh37 Chromosome 16, 223000: 223000
10 HBA2 NM_000517.6(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 Pathogenic rs41412046 GRCh37 Chromosome 16, 223599: 223599
12 HBA2 NM_000517.4(HBA2): c.429A> T (p.Ter143Tyr) single nucleotide variant Pathogenic rs41412046 GRCh38 Chromosome 16, 173600: 173600
13 HBA2 NM_000517.6(HBA2): c.314G> A (p.Cys105Tyr) single nucleotide variant Pathogenic rs41417548 GRCh37 Chromosome 16, 223484: 223484
14 HBA2 NM_000517.6(HBA2): c.314G> A (p.Cys105Tyr) single nucleotide variant Pathogenic rs41417548 GRCh38 Chromosome 16, 173485: 173485
15 HBA2 NM_000517.6(HBA2): c.301-1G> A single nucleotide variant Pathogenic rs587776827 GRCh38 Chromosome 16, 173471: 173471
16 HBA2 NM_000517.6(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 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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