A-THAL
MCID: ALP101
MIFTS: 60

Alpha-Thalassemia (A-THAL)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Alpha-Thalassemia

MalaCards integrated aliases for Alpha-Thalassemia:

Name: Alpha-Thalassemia 58 12 77 25 54 26 60 76 56 45 74
Alpha Thalassemia 12 54 26 30 6 15
Thalassemia, Alpha- 58 13
Alpha Plus Thalassemia 6
Thalassemias, Alpha- 58
Alpha^+^ Thalassemia 74
Alpha Thalassaemia 12
Thalassemia, Alpha 41
a-Thalassemia 54
Thalassemia 74
a-Thal 76

Characteristics:

Orphanet epidemiological data:

60
alpha-thalassemia
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:1099
OMIM 58 604131
ICD9CM 36 282.43
MeSH 45 D017085
NCIt 51 C34368
SNOMED-CT 69 68913001
ICD10 34 D56.0
MESH via Orphanet 46 D017085
ICD10 via Orphanet 35 D56.0
UMLS via Orphanet 75 C0002312 C1456873
Orphanet 60 ORPHA846
MedGen 43 C0002312

Summaries for Alpha-Thalassemia

UniProtKB/Swiss-Prot : 76 Alpha-thalassemia: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)- thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha- globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non- deletional alpha-thalassemia).

MalaCards based summary : Alpha-Thalassemia, also known as alpha thalassemia, is related to alpha-thalassemia/mental retardation syndrome, chromosome 16-related and alpha-thalassemia/mental retardation syndrome, x-linked, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Alpha-Thalassemia is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Malaria. The drugs Darbepoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are microcytic anemia and abnormal hemoglobin

Disease Ontology : 12 Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.

Genetics Home Reference : 26 Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.

NIH Rare Diseases : 54 Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. The inheritance is complex, and can be read about here. No treatment is effective for Hb Bart syndrome. For HbH disease, occasional red blood cell transfusions may be needed.

Wikipedia : 77 Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and... more...

Description from OMIM: 604131
GeneReviews: NBK1435

Related Diseases for Alpha-Thalassemia

Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia

Diseases related to Alpha-Thalassemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 34.8 HBA1 HBA2
2 alpha-thalassemia/mental retardation syndrome, x-linked 34.6 ATRX DAXX HELLS
3 alpha thalassemia-intellectual disability syndrome type 1 34.4 ATRX HBA1 HBA2 HBB SOX8
4 hydrops fetalis, nonimmune 33.4 HBA1 HBA2
5 hemoglobin h disease 33.3 ATRX EPO G6PD HBA1 HBA2 HBB
6 thalassemia 32.0 ATRX EPO HBA1 HBA2 HBB HBG1
7 hydrops fetalis 31.3 HBA1 HBA2
8 sickle cell disease 30.6 EPO G6PD HBA2 HBB HBG1 HBG2
9 hemoglobin zurich 30.5 HBA2 HBB
10 sickle cell anemia 30.4 EPO G6PD HBA1 HBA2 HBB HBG1
11 hypochromic microcytic anemia 30.2 HBA2 HBB
12 malaria 30.2 EPO G6PD HBA1 HBA2 HBB HP
13 microcytic anemia 30.2 EPO HBA1 HBA2 TFRC
14 glucosephosphate dehydrogenase deficiency 30.1 G6PD HBB HBG2 HP UGT1A1
15 plasmodium falciparum malaria 30.1 G6PD HBB HP
16 bilirubin metabolic disorder 30.1 G6PD HP UGT1A1
17 beta-thalassemia 29.7 EPO G6PD HBA1 HBA2 HBB HBG1
18 deficiency anemia 29.7 EPO G6PD HBA2 HBB HBG2 HP
19 hemoglobinopathy 29.7 EPO HBA1 HBA2 HBB HBG1 HP
20 hereditary spherocytosis 29.7 G6PD HBB HBG1 KLF1 TFRC UGT1A1
21 hemolytic anemia 29.4 EPO G6PD HBA1 HBA2 HBB HBG2
22 alpha thalassemia-x-linked intellectual disability syndrome 13.0
23 alpha-thalassemia myelodysplasia syndrome 12.8
24 alpha-thalassemia-abnormal morphogenesis 12.4
25 mental retardation-hypotonic facies syndrome, x-linked, 1 11.8
26 diabetes mellitus, insulin-dependent, 24 10.5 HBA1 HBA2
27 lymphatic malformation 7 10.4
28 fetal edema 10.4
29 hypoglycemic coma 10.4 HBA1 HBA2
30 erythrocytosis, familial, 7 10.4 HBA1 HBA2
31 type 1 diabetes mellitus 7 10.4 HBA1 HBA2
32 hemoglobinemia 10.4 HBB HP
33 methemoglobinemia, beta-globin type 10.4 HBA1 HBA2 HBB
34 type 1 diabetes mellitus 11 10.4 HBA1 HBA2
35 hemoglobin e disease 10.4
36 acquired methemoglobinemia 10.4 G6PD HBG2
37 glutathione peroxidase deficiency 10.4 HBA1 HBA2 HBB
38 heinz body anemias 10.4 HBA1 HBA2 HBB
39 congenital methemoglobinemia 10.4 G6PD HBG2
40 immature cataract 10.4 HBA1 HBA2
41 fetal hemoglobin quantitative trait locus 1 10.3 HBB HBG1 HBG2
42 autosomal genetic disease 10.3 ATRX HBB HBG1
43 blood protein disease 10.3 HBB HBG1 HBG2
44 blood group incompatibility 10.3 G6PD KLF1
45 blackwater fever 10.2 G6PD HP
46 myelodysplastic syndrome 10.2
47 gastric neuroendocrine neoplasm 10.2 ATRX DAXX
48 folic acid deficiency anemia 10.2 EPO TFRC
49 spherocytosis, type 3 10.2 HBB KLF1
50 iron overload in africa 10.2 HBB HP TFRC

Graphical network of the top 20 diseases related to Alpha-Thalassemia:



Diseases related to Alpha-Thalassemia

Symptoms & Phenotypes for Alpha-Thalassemia

Human phenotypes related to Alpha-Thalassemia:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001935
2 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011902
3 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
4 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
5 hemolytic anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001878
6 myelodysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002863
7 hydrops fetalis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001789
8 cholelithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001081
9 jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0000952
10 hypersplenism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001971
11 abnormality of immune system physiology 60 33 occasional (7.5%) Occasional (29-5%) HP:0010978
12 anemia 60 Occasional (29-5%)
13 hypochromic microcytic anemia 33 HP:0004840
14 reduced alpha/beta synthesis ratio 33 HP:0011907

Clinical features from OMIM:

604131

UMLS symptoms related to Alpha-Thalassemia:


angina pectoris, edema, chest pain

GenomeRNAi Phenotypes related to Alpha-Thalassemia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 DAXX EPO G6PD HBG2

MGI Mouse Phenotypes related to Alpha-Thalassemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 ATRX DAXX EPO G6PD HELLS KLF1
2 mortality/aging MP:0010768 9.4 ATRX DAXX EPO G6PD GDF15 HBA2

Drugs & Therapeutics for Alpha-Thalassemia

Drugs for Alpha-Thalassemia (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
Hydroxyurea Approved Phase 2 127-07-1 3657
4
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
5
Iron Approved, Experimental Phase 2,Not Applicable 7439-89-6, 15438-31-0 27284 23925
6 Nucleic Acid Synthesis Inhibitors Phase 2
7 Trace Elements Phase 2,Not Applicable
8 Iron Chelating Agents Phase 2
9 Liver Extracts Phase 2
10 Micronutrients Phase 2,Not Applicable
11 Chelating Agents Phase 2
12 Nutrients Phase 2,Not Applicable
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 23)
# 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 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
4 Stroke Prevention With Hydroxyurea Enabled Through Research and Education (SPHERE) Recruiting NCT03948867 Phase 2 Hydroxyurea
5 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
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 Screening for Alpha Thalassemia in Healthy Volunteers Recruiting NCT02692872
10 Genetics of Alpha Thalassemia in Israeli Ethnic Groups Completed NCT00159029
11 Collection of Human Biospecimens for Basic and Clinical Research Into Alpha Globin Variants Recruiting NCT03937817
12 Evaluation of the Free α-hemoglobin Pool in the Red Blood Cells : Prognostic Marker and Severity Index in Thalassemic Syndromes Completed NCT02855957 Not Applicable
13 Evaluation of Nutritional Status in Thalassemia Major Patients in Assiut Children Hospital Not yet recruiting NCT03161899
14 Malaria Studies in Cambodia Completed NCT00663546
15 Is Iron Deficiency the Cause of Anemia Among Women in Cambodia? Completed NCT02481375 Not Applicable
16 A Retrospective Study on the Effect of HBA or HBB Genetic Defects on Early Embryonic Development Recruiting NCT03687567
17 Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study Completed NCT00661804
18 Preventing the Spread of Malaria in Mali Completed NCT01360112
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 Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR Terminated NCT00143039

Search NIH Clinical Center for Alpha-Thalassemia

Cochrane evidence based reviews: alpha-thalassemia

Genetic Tests for Alpha-Thalassemia

Genetic tests related to Alpha-Thalassemia:

# Genetic test Affiliating Genes
1 Alpha Thalassemia 30 HBA1 HBA2 HBB

Anatomical Context for Alpha-Thalassemia

MalaCards organs/tissues related to Alpha-Thalassemia:

42
Skin, Bone, Heart, Testes, Kidney, Liver, Skeletal Muscle

Publications for Alpha-Thalassemia

Articles related to Alpha-Thalassemia:

(show top 50) (show all 973)
# Title Authors Year
1
Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia. ( 30129219 )
2019
2
Borderline hemoglobin A2 levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia. ( 30309760 )
2019
3
The population dynamics of hemoglobins A, A2, F and S in the context of the hemoglobinopathies HbS and α-thalassemia in Kenyan infants. ( 30467202 )
2019
4
Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia. ( 30595158 )
2019
5
Co-inheritance of alpha thalassemia dramatically decreases the risk of acute splenic sequestration in a large cohort of newborns with hemoglobin SC. ( 30630972 )
2019
6
X-linked α-thalassemia with mental retardation is downstream of protein kinase A in the meiotic cell cycle signaling cascade in Xenopus oocytes and is dynamically regulated in response to DNA damage†. ( 30649195 )
2019
7
The best cutoff value of middle cerebral artery peak systolic velocity for the diagnosis of fetal homozygous alpha thalassemia-1 disease. ( 30650188 )
2019
8
Severe hemolytic anemia due to combined α thalassemia and de novo Hemoglobin Sabine. ( 30673812 )
2019
9
First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C). ( 30728682 )
2019
10
A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia. ( 30803555 )
2019
11
First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family. ( 30843739 )
2019
12
Prenatal Ultrasound Presentations in Late Pregnancies Affected With Alpha Thalassemia Major. ( 30922164 )
2019
13
Authors' Response: Prenatal Ultrasound Presentations in Late Pregnancies Affected With Alpha Thalassemia Major. ( 30922165 )
2019
14
Increased endothelial activation in α-thalassemia disease. ( 30953084 )
2019
15
Alpha-Thalassemia in North Morocco: Prevalence and Molecular Spectrum. ( 31001551 )
2019
16
Molecular analysis of a large novel deletion causing α+-thalassemia. ( 31060505 )
2019
17
Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2. ( 31106603 )
2019
18
Polymorphisms of α-Globin Genes Compromise Polymerase Chain Reaction-Based α-Thalassemia Genotyping in Three Chinese Families. ( 31111755 )
2019
19
Molecular basis of α-thalassemia. ( 29032940 )
2018
20
Molecular Basis of α-Thalassemia in Iran ( 29115104 )
2018
21
Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen. ( 29273175 )
2018
22
A prospective analysis for prevalence of complications in Thai nontransfusion-dependent Hb E/β-thalassemia and α-thalassemia (Hb H disease). ( 29359464 )
2018
23
Fetal heart size measurements as new predictors of homozygous α-thalassemia-1 in mid-pregnancy. ( 29368430 )
2018
24
Identification of Three Types of α-Thalassemia Deletion, -α21.9, -α2.4, and - -THAI, and Their Frequencies, in One Family in the Population of Southern Guangxi Zhuang Autonomous Region, People's Republic of China. ( 29447013 )
2018
25
An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on P. Vivax Parasitemia. ( 29531652 )
2018
26
The incidental detection of alpha thalassemia. ( 29576180 )
2018
27
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study. ( 29627922 )
2018
28
Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation. ( 29749692 )
2018
29
Invasive prenatal diagnosis of α-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15 years of experience. ( 29948167 )
2018
30
A modified sandwich ELISA for accurate measurement of HbF in α-thalassemia carriers containing Hb Bart's and Hb Portland 1. ( 29985765 )
2018
31
Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6. ( 30073207 )
2018
32
Development of Visual Detection of α-Thalassemia-1 (the - -SEA Deletion) Using pH-Sensitive Loop-Mediated Isothermal Amplification. ( 30192689 )
2018
33
Rheological properties of sickle erythrocytes in patients with sickle-cell anemia: The effect of hydroxyurea, fetal hemoglobin, and α-thalassemia. ( 30204261 )
2018
34
KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population. ( 30205725 )
2018
35
Prevalence of α-Thalassemia in the Egyptian Population. ( 30422721 )
2018
36
Acquired α-thalassemia associated with myelodysplastic syndromes. ( 30442749 )
2018
37
Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia. ( 30486691 )
2018
38
Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia. ( 30504332 )
2018
39
Sickle Cell and α+-Thalassemia Traits Influence the Association between Ferritin and Hepcidin in Rural Kenyan Children Aged 14-26 Months. ( 30517728 )
2018
40
Atypical Prenatal Ultrasound Presentation and Neuropathological Findings in a Neonate With Alpha Thalassemia Major: A Case Report. ( 30550718 )
2018
41
A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia. ( 30623696 )
2018
42
Various α-Thalassemia Genotype Combinations of the Saudi-Type Polyadenylation Signal Mutation (αT-Saudiα) in the Population of Bahrain: An Update of Genotype-Phenotype Analyses. ( 30864492 )
2018
43
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series. ( 28276593 )
2018
44
Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation. ( 28342932 )
2017
45
Alpha-thalassemia major and restrictive foramen ovale in a preterm neonate without severe hydrops fetalis. ( 28381365 )
2017
46
Blood Pressure and Arterial Stiffness in Kenyan Adolescents With α+Thalassemia. ( 28381468 )
2017
47
A Comprehensive Molecular Investigation of α-Thalassemia in an Iranian Cohort from Different Provinces of North Iran. ( 28385057 )
2017
48
A Novel Mutation of the α2-Globin Gene Causing α+-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA). ( 28395547 )
2017
49
Establishment of MUi009 - A human induced pluripotent stem cells from a 32year old male with homozygous β°-thalassemia coinherited with heterozygous α-thalassemia 2. ( 28395745 )
2017
50
The Hb E (HBB: c.79G>A), Mean Corpuscular Volume, Mean Corpuscular Hemoglobin Cutoff Points in Double Heterozygous Hb E/- -SEA α-Thalassemia-1 Carriers are Dependent on Hemoglobin Levels. ( 28413893 )
2017

Variations for Alpha-Thalassemia

ClinVar genetic disease variations for Alpha-Thalassemia:

6 (show top 50) (show all 73)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh37 Chromosome 11, 5248200: 5248200
2 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh38 Chromosome 11, 5226970: 5226970
3 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh37 Chromosome 11, 5248004: 5248004
4 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh38 Chromosome 11, 5226774: 5226774
5 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 GRCh37 Chromosome 11, 5248159: 5248159
6 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 GRCh38 Chromosome 11, 5226929: 5226929
7 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 GRCh37 Chromosome 11, 5247806: 5247806
8 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 GRCh38 Chromosome 11, 5226576: 5226576
9 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 GRCh37 Chromosome 11, 5248155: 5248155
10 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 GRCh38 Chromosome 11, 5226925: 5226925
11 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 GRCh37 Chromosome 11, 5248154: 5248154
12 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 GRCh38 Chromosome 11, 5226924: 5226924
13 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 GRCh37 Chromosome 11, 5248050: 5248050
14 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 GRCh38 Chromosome 11, 5226820: 5226820
15 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 GRCh37 Chromosome 11, 5247062: 5247062
16 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 GRCh38 Chromosome 11, 5225832: 5225832
17 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 GRCh37 Chromosome 11, 5248330: 5248330
18 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 GRCh38 Chromosome 11, 5227100: 5227100
19 HBA2 NM_000517.4(HBA2): c.427T> C (p.Ter143Gln) single nucleotide variant Pathogenic rs41464951 GRCh37 Chromosome 16, 223597: 223597
20 HBA2 NM_000517.4(HBA2): c.427T> C (p.Ter143Gln) single nucleotide variant Pathogenic rs41464951 GRCh38 Chromosome 16, 173598: 173598
21 HBA2 NM_000517.6(HBA2): c.377T> C (p.Leu126Pro) single nucleotide variant Pathogenic rs41397847 GRCh37 Chromosome 16, 223547: 223547
22 HBA2 NM_000517.6(HBA2): c.377T> C (p.Leu126Pro) single nucleotide variant Pathogenic rs41397847 GRCh38 Chromosome 16, 173548: 173548
23 HBA2 NM_000517.6(HBA2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033603 GRCh37 Chromosome 16, 222913: 222913
24 HBA2 NM_000517.6(HBA2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033603 GRCh38 Chromosome 16, 172914: 172914
25 HBA2 NM_000517.6(HBA2): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs33987053 GRCh37 Chromosome 16, 223519: 223519
26 HBA2 NM_000517.6(HBA2): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs33987053 GRCh38 Chromosome 16, 173520: 173520
27 HBA2 NM_000517.6(HBA2): c.96-2A> G single nucleotide variant Pathogenic rs41457746 GRCh37 Chromosome 16, 223122: 223122
28 HBA2 NM_000517.6(HBA2): c.96-2A> G single nucleotide variant Pathogenic rs41457746 GRCh38 Chromosome 16, 173123: 173123
29 HBA2 NM_000517.6(HBA2): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs281864819 GRCh37 Chromosome 16, 222981: 222981
30 HBA2 NM_000517.6(HBA2): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs281864819 GRCh38 Chromosome 16, 172982: 172982
31 HBA2 NM_000517.6(HBA2): c.69C> T (p.Gly23=) single nucleotide variant Likely pathogenic rs63751457 GRCh37 Chromosome 16, 222980: 222980
32 HBA2 NM_000517.6(HBA2): c.69C> T (p.Gly23=) single nucleotide variant Likely pathogenic rs63751457 GRCh38 Chromosome 16, 172981: 172981
33 HBA2 NM_000517.6(HBA2): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs41328049 GRCh37 Chromosome 16, 223206: 223206
34 HBA2 NM_000517.6(HBA2): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs41328049 GRCh38 Chromosome 16, 173207: 173207
35 HBA1 NM_000558.4(HBA1): c.43T> Y single nucleotide variant Pathogenic rs33964317 GRCh37 Chromosome 16, 226758: 226758
36 HBA1 NM_000558.4(HBA1): c.43T> Y single nucleotide variant Pathogenic rs33964317 GRCh38 Chromosome 16, 176759: 176759
37 HBA1 NM_000558.5(HBA1): c.223G> C (p.Asp75His) single nucleotide variant Uncertain significance rs28928875 GRCh37 Chromosome 16, 227055: 227055
38 HBA1 NM_000558.5(HBA1): c.223G> C (p.Asp75His) single nucleotide variant Uncertain significance rs28928875 GRCh38 Chromosome 16, 177056: 177056
39 HBA1 HBA1, 21-BP INS-DUP duplication Pathogenic
40 HBA1 HBA1, 33-BP DEL deletion Pathogenic
41 HBA1 HBA1, 1-BP DEL, 354C deletion Pathogenic
42 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 GRCh37 Chromosome 11, 5248388: 5248388
43 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 GRCh38 Chromosome 11, 5227158: 5227158
44 HBA1; HBA2; HBM; HBZ; LOC106804612; LOC106804613 NM_005332.2(HBZ): c.330_*22601del deletion Pathogenic GRCh37 Chromosome 16, 204300: 227000
45 HBA1; HBA2; HBM; HBZ; LOC106804612; LOC106804613 NM_005332.2(HBZ): c.330_*22601del deletion Pathogenic GRCh38 Chromosome 16, 154301: 177001
46 HBA1; HBA2; LOC106804612; LOC106804613 NG_000006.1: g.34164_37967del3804 deletion Pathogenic GRCh37 Chromosome 16, 223300: 227103
47 HBA1; HBA2; LOC106804612; LOC106804613 NG_000006.1: g.34164_37967del3804 deletion Pathogenic GRCh38 Chromosome 16, 173301: 177104
48 HBA2 NM_000517.4(HBA2): c.94_95delAG (p.Arg32AspfsTer24) deletion Pathogenic rs1057519637 GRCh37 Chromosome 16, 223005: 223006
49 HBA2 NM_000517.4(HBA2): c.94_95delAG (p.Arg32AspfsTer24) deletion Pathogenic rs1057519637 GRCh38 Chromosome 16, 173006: 173007
50 HBA2 NM_000517.4(HBA2): c.95+2_95+6delTGAGG deletion Pathogenic rs41474145 GRCh38 Chromosome 16, 173009: 173013

Expression for Alpha-Thalassemia

Search GEO for disease gene expression data for Alpha-Thalassemia.

Pathways for Alpha-Thalassemia

GO Terms for Alpha-Thalassemia

Cellular components related to Alpha-Thalassemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 G6PD GDF15 HBA1 HBA2 HBB HBZ
2 blood microparticle GO:0072562 9.73 HBA1 HBA2 HBB HBG2 HP TFRC
3 endocytic vesicle lumen GO:0071682 9.46 HBA1 HBA2 HBB HP
4 hemoglobin complex GO:0005833 9.43 HBA1 HBA2 HBB HBG1 HBG2 HBZ
5 pericentric heterochromatin GO:0005721 9.32 ATRX HELLS
6 haptoglobin-hemoglobin complex GO:0031838 9.17 HBA1 HBA2 HBB HBG1 HBG2 HBZ

Biological processes related to Alpha-Thalassemia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.83 HBA1 HBA2 HBB HP TFRC
2 protein heterooligomerization GO:0051291 9.73 HBA1 HBA2 HBB HBG1 HBG2 HBZ
3 cellular oxidant detoxification GO:0098869 9.7 HBA1 HBA2 HBB HBG1 HBG2 HBZ
4 response to hydrogen peroxide GO:0042542 9.67 HBA1 HBA2 HBB HP
5 bicarbonate transport GO:0015701 9.65 HBA1 HBA2 HBB
6 acute-phase response GO:0006953 9.63 EPO HP UGT1A1
7 positive regulation of cell death GO:0010942 9.62 HBA1 HBA2 HBB HP
8 erythrocyte maturation GO:0043249 9.58 EPO G6PD HBZ
9 DNA methylation GO:0006306 9.51 ATRX HELLS
10 Sertoli cell development GO:0060009 9.49 ATRX SOX8
11 hydrogen peroxide catabolic process GO:0042744 9.43 HBA1 HBA2 HBB HBG1 HBG2 HBZ
12 oxygen transport GO:0015671 9.1 HBA1 HBA2 HBB HBG1 HBG2 HBZ

Molecular functions related to Alpha-Thalassemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.85 HBA1 HBA2 HBB HBG1 HBG2 HBZ
2 oxygen binding GO:0019825 9.8 HBA1 HBA2 HBB HBG1 HBG2 HBZ
3 peroxidase activity GO:0004601 9.73 HBA1 HBA2 HBB HBG1 HBG2 HBZ
4 iron ion binding GO:0005506 9.63 HBA1 HBA2 HBZ
5 oxygen carrier activity GO:0005344 9.63 HBA1 HBA2 HBB HBG1 HBG2 HBZ
6 organic acid binding GO:0043177 9.43 HBA1 HBA2 HBB HBG1 HBG2 HBZ
7 hemoglobin binding GO:0030492 9.4 HBB HP
8 haptoglobin binding GO:0031720 9.1 HBA1 HBA2 HBB HBG1 HBG2 HBZ
9 protein binding GO:0005515 10.34 ATRX DAXX EPO G6PD GDF15 HBA1

Sources for Alpha-Thalassemia

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
Content
Loading form....