A-THAL
MCID: ALP101
MIFTS: 63

Alpha-Thalassemia (A-THAL)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Alpha-Thalassemia

MalaCards integrated aliases for Alpha-Thalassemia:

Name: Alpha-Thalassemia 57 11 24 19 42 58 75 73 53 43 71
Alpha Thalassemia 11 19 42 28 5 14
Alpha Thalassaemia 11 31 33
Alpha Plus Thalassemia 5 71
Alpha Thalassaemia Syndrome 33
Thalassemias, Alpha- 57
Thalassemia, Alpha- 57
a-Thalassemia 19
Α-Thalassemia 42
Thalassemia 71
a-Thal 73

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

1-5/10000 (United States) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:1099
OMIM® 57 604131
ICD9CM 34 282.43
MeSH 43 D017085
NCIt 49 C34368
SNOMED-CT 68 191186002
ICD10 31 D56.0
MESH via Orphanet 44 D017085
ICD10 via Orphanet 32 D56.0
UMLS via Orphanet 72 C0002312 C1456873
Orphanet 58 ORPHA846
MedGen 40 C0002312
UMLS 71 C0002312 C0039730 C1456873

Summaries for Alpha-Thalassemia

MedlinePlus Genetics: 42 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.In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (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 hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease.Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. Without treatment, most babies with this condition are stillborn or die soon after birth because of these serious health problems. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery, and abnormal bleeding.HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). The features of HbH disease usually appear in early childhood, and affected individuals typically live into adulthood.

MalaCards based summary: Alpha-Thalassemia, also known as alpha thalassemia, is related to hemoglobin h disease and alpha thalassemia-intellectual disability syndrome type 1, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Alpha-Thalassemia is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Metformin and Peginterferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and heart, and related phenotypes are microcytic anemia and abnormal hemoglobin

UniProtKB/Swiss-Prot: 73 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).

GARD: 19 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. 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.

OMIM®: 57 Alpha-thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha-globin chains. Four clinical conditions of increased severity are recognized: the silent carrier state (clinically and hematologically normal); thalassemia trait (microcytosis, hypochromia, and mild anemia); hemoglobin H (HbH) disease (613978; moderate to severe microcytic, hypochromic, hemolytic anemia, mild jaundice, moderate hepatosplenomgaly); and Hb Bart hydrops fetalis syndrome (236750; severe anemia, generalized edema, ascites, marked hepatosplenomegaly, skeletal and cardiac malformations, usually death in utero) (summary by Galanello and Cao, 2011). (604131) (Updated 08-Dec-2022)

Orphanet: 58 A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

Disease Ontology: 11 Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.

Wikipedia: 75 Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and... more...

GeneReviews: NBK1435

Related Diseases for Alpha-Thalassemia

Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia
Autosomal Dominant Beta Thalassemia Beta-Thalassemia and Related Diseases
Alpha-Thalassemia and Related Disorders

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

(show top 50) (show all 287)
# Related Disease Score Top Affiliating Genes
1 hemoglobin h disease 33.7 TFRC LOC106804613 LOC106804612 HBZ HBB HBA2
2 alpha thalassemia-intellectual disability syndrome type 1 33.5 SOX8 HBA2 HBA1 DAXX ATRX
3 alpha-thalassemia/mental retardation syndrome, x-linked 33.5 HELLS ATRX
4 alpha-thalassemia myelodysplasia syndrome 33.5 HBG2 HBG1 DAXX ATRX
5 hydrops fetalis, nonimmune 33.1 LOC106804612 HBA2 HBA1
6 thalassemia 33.1 UGT1A1 TFRC LOC110006319 LOC107133510 LOC106804613 LOC106804612
7 histiocytosis-lymphadenopathy plus syndrome 32.0 HBZ HBB HBA2 HBA1 G6PD
8 beta-thalassemia 32.0 UGT1A1 TFRC LOC110006319 LOC107133510 LOC106099062 KLF1
9 sickle cell anemia 31.9 UGT1A1 TFRC LOC110006319 LOC107133510 LOC106099062 KLF1
10 deficiency anemia 31.8 TFRC LOC107133510 LOC106804612 LOC106099062 KLF1 HBG2
11 hemoglobinopathy 31.8 TFRC LOC110006319 LOC107133510 LOC106099062 KLF1 HBZ
12 sickle cell disease 31.7 UGT1A1 LOC110006319 LOC107133510 LOC106099062 HBG2 HBG1
13 iron metabolism disease 31.6 TFRC HBB G6PD EPO
14 microcytic anemia 31.4 TFRC HBB HBA2 G6PD EPO
15 hemoglobin e disease 31.4 TFRC LOC107133510 LOC106099062 KLF1 HBG2 HBB
16 hemolytic anemia 31.4 UGT1A1 TFRC LOC107133510 LOC106099062 KLF1 HBG2
17 thalassemia minor 31.3 HBG2 HBG1 HBB HBA2 HBA1 EPO
18 hemoglobin se disease 31.3 LOC110006319 LOC107133510 LOC106099062 HBB
19 glucosephosphate dehydrogenase deficiency 31.3 UGT1A1 HBG2 HBB HBA2 HBA1 G6PD
20 splenomegaly 31.3 LOC106804612 HBB HBA2 HBA1 EPO
21 iron deficiency anemia 31.2 TFRC HBG2 G6PD EPO
22 malaria 31.2 TFRC LOC110006319 LOC107133510 LOC106099062 HBG2 HBB
23 anemia, sideroblastic, 1 31.2 TFRC KLF1 HBB EPO
24 beta-thalassemia major 31.1 TFRC LOC110006319 LOC107133510 LOC106099062 KLF1 HBG2
25 hypochromic microcytic anemia 31.1 TFRC HBB HBA2 HBA1 EPO
26 fetal hemoglobin quantitative trait locus 1 31.0 LOC110006319 LOC107133510 LOC106099062 KLF1 HBG2 HBG1
27 bilirubin metabolic disorder 30.9 UGT1A1 HBG2 G6PD EPO
28 hereditary spherocytosis 30.9 UGT1A1 TFRC KLF1 HBG1 HBB G6PD
29 hemoglobin e-beta-thalassemia syndrome 30.8 LOC107133510 LOC106099062 HBB
30 erythroleukemia 30.8 TFRC KLF1 HBG1 HBB EPO
31 acute erythroid leukemia 30.8 TFRC KLF1 EPO
32 beta-thalassemia intermedia 30.7 TFRC KLF1 HBG2 HBG1 HBB EPO
33 hemoglobin c disease 30.7 LOC107133510 LOC106099062 KLF1 HBG2 HBG1 HBB
34 hemochromatosis, type 1 30.7 TFRC HBB HBA2 HBA1 EPO
35 neonatal jaundice 30.6 UGT1A1 HBG2 G6PD
36 splenic sequestration 30.6 HBB EPO
37 heinz body anemias 30.5 LOC110006319 LOC107133510 LOC106804613 LOC106804612 LOC106099062 HBZ
38 methemoglobinemia 30.5 HBG2 HBB G6PD
39 sickle cell disease and related diseases 30.5 LOC107133510 LOC106099062 HBB
40 neonatal anemia 30.5 TFRC KLF1 HBB EPO
41 immune hydrops fetalis 30.4 HBA2 HBA1
42 congenital hemolytic anemia 30.4 TFRC KLF1 HBG2 HBG1 HBB HBA2
43 plasmodium vivax malaria 30.1 TFRC G6PD
44 alpha thalassemia-x-linked intellectual disability syndrome 12.0
45 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 11.7
46 syndrome with alpha-thalassemia as a major feature 11.6
47 intellectual disability-hypotonic facies syndrome, x-linked, 1 11.4
48 alpha-thalassemia and related disorders 11.4
49 erythrocytosis, familial, 7 10.5 LOC106804613 LOC106804612 HBB HBA2 HBA1
50 autosomal dominant secondary polycythemia 10.5 HBB HBA2 HBA1 EPO

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:

58 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001935
2 abnormal hemoglobin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011902
3 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
4 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100543
5 hydrops fetalis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001789
6 cholelithiasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001081
7 jaundice 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000952
8 hemolytic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001878
9 hypersplenism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001971
10 myelodysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002863
11 abnormality of immune system physiology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010978
12 anemia 58 Occasional (29-5%)
13 hypochromic microcytic anemia 30 HP:0004840
14 reduced alpha/beta synthesis ratio 30 HP:0011907

Clinical features from OMIM®:

604131 (Updated 08-Dec-2022)

UMLS symptoms related to Alpha-Thalassemia:


angina pectoris; chest pain; edema

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 DAXX EPO G6PD HBG2

Drugs & Therapeutics for Alpha-Thalassemia

Drugs for Alpha-Thalassemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 248)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
2
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
3
Zoledronic acid Approved Phase 4 118072-93-8 68740
4
Ledipasvir Approved Phase 4 1256388-51-8 67505836
5
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
6
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
7
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
8
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 77335690 67683363
9
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4
10
Ribavirin Approved Phase 4 36791-04-5 37542
11
Mycophenolic acid Approved, Investigational Phase 4 24280-93-1 446541
12
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643
13
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
14
Sildenafil Approved, Investigational Phase 4 139755-83-2, 171599-83-0 5212 135398744
15
Basiliximab Approved, Investigational Phase 4 179045-86-4
16
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
17
Lactitol Approved, Investigational Phase 4 585-86-4 157355
18
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
19
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
20
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731
21
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
22
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
23
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
24 Vaccines Phase 4
25 Interferon alpha-2 Phase 4
26 Interferon-alfa-1b Phase 4
27 Hormones Phase 4
28 Vitamins Phase 4
29 Trace Elements Phase 4
30 Micronutrients Phase 4
31 Ledipasvir, sofosbuvir drug combination Phase 4
32 Calcium, Dietary Phase 4
33 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
34 Calciferol Phase 4
35 Sofosbuvir-velpatasvir drug combination Phase 4
36 interferons Phase 4
37 Interferon-alpha Phase 4
38
Vitamin D2 Phase 4 3249
39 Ergocalciferols Phase 4
40 Hydroxycholecalciferols Phase 4
41 Immunoglobulins, Intravenous Phase 4
42 Calcineurin Inhibitors Phase 4
43 Antitubercular Agents Phase 4
44 Pharmaceutical Solutions Phase 4
45 Phosphodiesterase Inhibitors Phase 4
46 Phosphodiesterase 5 Inhibitors Phase 4
47 Vasodilator Agents Phase 4
48 Citrate Phase 4
49 Immunoglobulin Fc Fragments Phase 4
50 Cyclosporins Phase 4

Interventional clinical trials:

(show top 50) (show all 369)
# Name Status NCT ID Phase Drugs
1 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Unknown status NCT02984475 Phase 4 Metformin
2 Study of the B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals With Beta-thalassemia Major Unknown status NCT01846923 Phase 4
3 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Unknown status NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
4 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Treatment: a Multi-center, Open, Randomized, Controlled Clinical Study Unknown status NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
5 A Randomized, Placebo Controlled, Double Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance Unknown status NCT00103753 Phase 4 deferiprone
6 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
7 Investigation of Signal Pathway Induced by Colla Corri Asini Regulating Globin Level in Beta Thalassemia Patients With Pregnancy Anemia Unknown status NCT03392298 Phase 4 Colla corii asini
8 Phase IV Study of Effectiveness of Interferon and Ribavirin Treatment in Thalassemia Major Patients With Chronic Viral Hepatitis C Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
9 A Multi-center Randomized, Double-blind, Placebo-controlled Study of Colla Corii Asini for the Treatment of Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Unknown status NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
10 Phase IV Study of the Use of Sequential DFP-DFO Versus DFP in Thalassemia Major Patients Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
11 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
12 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
13 Increased Survival and Reversion of Iron-Induced Cardiac Disease in Patients With Thalassemia Major Receiving Intensive Combined Chelation Therapy Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
14 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
15 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
16 Randomized Trial Comparing the Relative Efficacy of Deferiprone to That of Deferoxamine in Removing Excess Cardiac Iron in Thalassemia Major Patients Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
17 1-year Extension to CICL670A2402 an Open-label, Multi-center Trial of the Efficacy and Safety of Long-term Treatment With Deferasirox (10 to 20 mg/kg/Day) in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2- Year Duration) Completed NCT00171301 Phase 4 Deferasirox
18 A Phase II, Multi-center, Single-arm, Prospective Study to Evaluate the Safety and Efficacy of Deferasirox in Beta-thalassemia Major Patients After Hematopoietic Stem Cell Transplantation. Completed NCT01610297 Phase 4 ICL670
19 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
20 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Completed NCT03591575 Phase 4 Deferiprone oral solution;Placebo
21 Prospective Crossover Study on Beta(ß)-Thalassaemia Transfusion-dependent to Evaluate the Impact on Transfusion Regimen of Two Pre-storage Leukoreduced PRBCs(In-line Filtration + B-C Separation; Whole Blood Filtration + B-C Conservation) Completed NCT03992001 Phase 4
22 Evaluation of Liver Fibrosis by Serum Hyalornic Acid Measurement in β-Thalassemic Children Infected With Hepatitis C Virus Before and After Direct-Acting Antiviral Therapy Completed NCT03961828 Phase 4 Ledipasvir 90 MG / Sofosbuvir 400 MG [Harvoni]
23 An Open Label, Multi-center, Efficacy and Safety Study of Deferasirox in Iron Overloaded Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 deferasirox
24 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
25 Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events Completed NCT00346242 Phase 4 Zoledronic Acid
26 1 Year, Open-label Multicenter Evaluation of Efficacy, Safety of Deferasirox in Patients MDS, Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
27 A Study on PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin) in Iranian Thalassemic Patients With Chronic Hepatitis C Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
28 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Completed NCT03176849 Phase 4
29 Comparative Clinical Study Evaluating the Effect of L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
30 Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major: A Multicenter, Prospective Clinical Study Recruiting NCT04009525 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Thymoglobulin;cyclosporine A;Mycophenolate mofetil;Tacrolimus;Methotrexate;Basiliximab;Ruxolitinib
31 The Safety and Efficiency of Luspatercept in Chinese Adults With Transfusion Dependent β-thalassemia: a Real-world Study Recruiting NCT05462548 Phase 4 Luspatercept Injectable Product
32 Open Label, Multi-center, Phase IV Study of Ruxolitinib or Ruxolitinib and Panobinostat Combination, for Patients Who Have Completed Prior Global Novartis or Incyte Sponsored Studies Recruiting NCT02386800 Phase 4 ruxolitinib;panobinostat
33 An Open Label Study to Evaluate the Pharmacokinetics, Safety, Tolerability and Efficacy of Deferasirox Administered to Chinese Patients With β-thalassemia Major Aged From 2 to Less Than 6 Years Old Withdrawn NCT01724138 Phase 4 Deferasirox
34 A Multicenter, Open-label, Single Arm, Interventional Phase IV Study, to Evaluate the Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
35 Efficacy and Safety Study of Sugammadex in Children 0-2 Years Old Unknown status NCT03728543 Phase 2, Phase 3 Sugammadex
36 Study of Safty and Efficacy of Adjuvant Vitamin c in Augmenting Iron Chelation Unknown status NCT02083575 Phase 2, Phase 3 Vitamin C, Defriprone, deferisarox;deferiprone , deferesarox
37 Pharmacokinetics of Sofosbuvir and Ledipasvir in Hepatitis C Virus - Infected Adolescent Patients With Haematological Disorders Unknown status NCT04353986 Phase 3 Sofosbuvir and Ledipasvir
38 Phase 2 Study of Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3 Hydroxyurea ,Epiao;hydroxyurea, blood transfusion
39 Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients: A Prospective Pilot Study Unknown status NCT01016093 Phase 2, Phase 3 Zoledronic acid;Placebo
40 Combined Therapy of Silymarin and Desferrioxamine in Patients With B-thalassemia Major: a Randomized Double-blind Clinical Trial Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
41 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
42 A Decisional Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Naive to Iron Chelation Therapy. A Comparative Randomized Prospective Study Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
43 Effect of Zinc Supplementation on Glucose Homeostasis in Patients With β-Thalassemia Major Complicated With Diabetes Mellitus Completed NCT03851055 Phase 3 Zinc
44 Impact of Combination Therapy Between Hydroxy Urea, Omega 3, Nigella Sativa and Honey on Antioxidant-oxidant Status and Reduction of Iron Overload in Pediatric Major Thalassemia Completed NCT04292314 Phase 2, Phase 3 Omega 3;Nigella Sativa Oil;Hydroxyurea;Honey;Deferoxamine
45 A Phase 3, Double-Blind, Placebo Controlled Multicenter Study to Determine the Efficacy and Safety of Luspatercept (ACE-536) in Adults With Transfusion Dependent Beta (B)-Thalassemia Completed NCT02604433 Phase 3 Luspatercept
46 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
47 A Study of Efficacy and Safety of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
48 A Randomized, Comparative, Open Label Phase III Trial on Efficacy & Safety of Long-term Treatment With ICL670 Compared to Deferoxamine in Beta-thalassemia Patients With Transfusional Hemosiderosis Completed NCT00061750 Phase 3 ICL670;deferoxamine
49 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
50 Efficacy and Safety of Combination of Hydroxyurea and Low-dose Thalidomide on Hemoglobin Synthesis in Thalassemia Patients Completed NCT05132270 Phase 2, Phase 3 hydroxyurea and thalidomide

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 28 HBA1 HBA2 HBB

Anatomical Context for Alpha-Thalassemia

Organs/tissues related to Alpha-Thalassemia:

MalaCards : Spleen, Liver, Heart, Bone, Skin, Bone Marrow, T Cells
ODiseA: Blood And Bone Marrow

Publications for Alpha-Thalassemia

Articles related to Alpha-Thalassemia:

(show top 50) (show all 3786)
# Title Authors PMID Year
1
The α-thalassemias. 62 24 57
25390741 2014
2
The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant. 53 62 5
17486500 2007
3
Hemoglobin H disease: not necessarily a benign disorder. 24 5
12393486 2003
4
Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel. 53 62 5
11074535 2000
5
Identification of a Novel 9.7 kb Deletion Causing α0-Thalassemia in Two Pregnant Women in Southern China. 62 5
30864493 2018
6
A Novel 31.1 kb α-Thalassemia Deletion (- -MEX3) Found in a Mexican Family. 62 5
28791910 2017
7
Evaluation of α-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran. 62 5
26878087 2016
8
Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia. 62 5
26114741 2015
9
Characterization of Clinical and Laboratory Profiles of the Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA- -) in an Indian Population. 62 5
26365411 2015
10
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other α-thalassemias in Malay families. 62 5
24829075 2014
11
Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] variant. 62 5
24111644 2014
12
Distribution of alpha thalassaemia gene variants in diverse ethnic populations in malaysia: data from the institute for medical research. 62 5
24025420 2013
13
Diagnostic testing for α-globin gene disorders in a heterogeneous North American population. 62 5
23590659 2013
14
α-thalassemia trait caused by frameshift mutations in exon 2 of the α2-globin gene: HBA2:c.131delT and HBA2:c.143delA. 62 5
22943743 2012
15
Gene test review. Alpha-thalassemia. 62 57
21381239 2011
16
Molecular lesion frequency of hemoglobin gene disorders in Taiwan. 62 5
21599435 2011
17
[Analysis of the phenotype-genotype relationship of Hb Constant Spring]. 62 5
20931520 2010
18
Molecular diversity of hemoglobin H disease in India. 62 5
20154289 2010
19
Molecular screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and Paksé (codon 142, TAA>TAT, α2) mutations in Thailand. 62 5
21077767 2010
20
Detection of a thalassemic alpha-chain variant (Hemoglobin Groene Hart) by reversed-phase liquid chromatography. 62 5
18420733 2008
21
An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene. 62 5
18654893 2008
22
Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. 62 5
17164653 2006
23
Three new alpha-thalassemia point mutations ascertained through newborn screening. 62 5
16798638 2006
24
A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family. 62 5
15481894 2004
25
An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene. 62 5
15481895 2004
26
Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease. 62 5
14978697 2004
27
A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases. 62 5
15008259 2004
28
A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)]. 62 5
15658192 2004
29
Dinucleotide deletion in -alpha3.7 allele causes a severe form of alpha+ thalassaemia. 62 5
12890155 2003
30
Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene. 62 5
11791872 2001
31
A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia. 62 5
11570724 2001
32
Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia. 62 5
11017952 2000
33
PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions. 62 5
10602170 2000
34
Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia. 62 5
10569720 1999
35
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. 62 57
9516118 1998
36
An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families. 62 5
8943885 1996
37
The relative levels of alpha 2-, alpha 1-, and zeta-mRNA in HB H patients with different deletional and nondeletional alpha-thalassemia determinants. 62 5
8781536 1996
38
Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population. 62 5
8756078 1996
39
Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation). 62 5
7639274 1995
40
A novel polyadenylation signal mutation in the alpha 2-globin gene causing alpha thalassaemia. 62 5
7947237 1994
41
Characterization of a new alpha-thalassemia-1 mutation in a Spanish family. 62 5
7910813 1994
42
Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients. 62 5
8237999 1993
43
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). 62 5
8460633 1993
44
alpha-Thalassaemia. 62 57
8353312 1993
45
A new gene deletion involving the alpha 2-, alpha 1-, and theta 1-globin genes in a black family with Hb H disease. 62 5
1553958 1992
46
Alpha thalassaemia in two Spanish families. 62 5
2318293 1990
47
Characterization of a new alpha-thalassemia-1 deletion in a Spanish family. 62 5
2544542 1989
48
Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL). 62 5
3191033 1988
49
Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon. 62 5
2831226 1988
50
An alpha-globin gene initiation codon mutation in a black family with HbH disease. 62 5
3620699 1987

Variations for Alpha-Thalassemia

ClinVar genetic disease variations for Alpha-Thalassemia:

5 (show top 50) (show all 132)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106804612, HBA2 NM_000517.6(HBA2):c.349G>T (p.Glu117Ter) SNV Pathogenic
15644 rs33987053 GRCh37: 16:223519-223519
GRCh38: 16:173520-173520
2 LOC106804613, HBA1 NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa) SNV Pathogenic
15724 rs33964317 GRCh37: 16:226758-226758
GRCh38: 16:176759-176759
3 overlap with 6 genes NM_005332.2(HBZ):c.330_*22601del DEL Pathogenic
38635 GRCh37: 16:204300-227000
GRCh38: 16:154301-177001
4 HBA2 DEL Pathogenic
375752 GRCh37:
GRCh38:
5 LOC106804612, HBA2 NM_000517.6(HBA2):c.339C>G (p.His113Gln) SNV Pathogenic
375745 rs63750404 GRCh37: 16:223509-223509
GRCh38: 16:173510-173510
6 overlap with 4 genes DEL Pathogenic
433555 GRCh37:
GRCh38: 16:172007-177537
7 overlap with 8 genes NC_000016.10:g.(?_151209)_(182142_?)del DEL Pathogenic
487442 GRCh37: 16:201208-232141
GRCh38: 16:151209-182142
8 overlap with 5 genes NC_000016.10:g.(?_169780)_(182142_?)del DEL Pathogenic
487448 GRCh37: 16:219779-232141
GRCh38: 16:169780-182142
9 overlap with 2 genes GRCh37/hg19 16p13.3(chr16:221962-228406) CN LOSS Pathogenic
625828 GRCh37: 16:221962-228406
GRCh38:
10 overlap with 4 genes GRCh37/hg19 16p13.3(chr16:216075-231021) CN LOSS Pathogenic
625829 GRCh37: 16:216075-231021
GRCh38:
11 HBA1, HBA2 NC_000016.10:g.158101_179001del DEL Pathogenic
869215 GRCh37:
GRCh38:
12 overlap with 5 genes NM_005331.4(HBQ1):c.-16686_-286del DEL Pathogenic
38633 GRCh37: 16:213800-230200
GRCh38: 16:163801-180201
13 HBA1, HBA2 NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA INDEL Pathogenic
869216 GRCh37:
GRCh38:
14 overlap with 5 genes NC_000016.10:g.171847_181556del DEL Pathogenic
869217 GRCh37: 16:221844-231553
GRCh38: 16:171845-181554
15 overlap with 5 genes NC_000016.10:g.172001_181401del DEL Pathogenic
869218 GRCh37: 16:221999-231399
GRCh38: 16:172000-181400
16 LOC106804612, HBA2 NM_000517.6(HBA2):c.1A>G (p.Met1Val) SNV Pathogenic
15645 rs121909803 GRCh37: 16:222912-222912
GRCh38: 16:172913-172913
17 LOC106804612, HBA2 NM_000517.6(HBA2):c.301-1G>A SNV Pathogenic
15668 rs587776827 GRCh37: 16:223470-223470
GRCh38: 16:173471-173471
18 LOC106804612, HBA2 NM_000517.6(HBA2):c.329T>G (p.Leu110Arg) SNV Pathogenic
15632 rs41479844 GRCh37: 16:223499-223499
GRCh38: 16:173500-173500
19 LOC106804612, HBA2 NM_000517.6(HBA2):c.377T>A (p.Leu126Gln) SNV Pathogenic
869221 rs41397847 GRCh37: 16:223547-223547
GRCh38: 16:173548-173548
20 LOC106804613, HBA1 NM_000558.5(HBA1):c.396dup (p.Val133fs) DUP Pathogenic
869325 rs34021271 GRCh37: 16:227376-227377
GRCh38: 16:177377-177378
21 LOC106804613, HBA1 NM_000558.5(HBA1):c.43T>C (p.Trp15Arg) SNV Pathogenic
439103 rs33964317 GRCh37: 16:226758-226758
GRCh38: 16:176759-176759
22 LOC106804613, HBA1 NM_000558.5(HBA1):c.94_95del (p.Arg32fs) MICROSAT Pathogenic
801167 rs1596573477 GRCh37: 16:226806-226807
GRCh38: 16:176807-176808
23 overlap with 5 genes NC_000016.10:g.(168531_169756)_(182770_183028)del DEL Pathogenic
869332 GRCh37:
GRCh38: 16:168531-183028
24 overlap with 5 genes NC_000016.10:g.(169756_170100)_(179044_181595)del DEL Pathogenic
869333 GRCh37:
GRCh38: 16:169756-181595
25 HBA1, HBA2, HBZ NC_000016.10:g.147601_179801del DEL Pathogenic
869334 GRCh37:
GRCh38:
26 HBA1, HBA2, HBZ NC_000016.10:g.147937_179144del DEL Pathogenic
869335 GRCh37:
GRCh38:
27 HBA1, HBA2, HBZ NC_000016.10:g.150002_180002del DEL Pathogenic
869336 GRCh37:
GRCh38:
28 overlap with 8 genes NC_000016.10:g.151479_182582del DEL Pathogenic
869337 GRCh37:
GRCh38: 16:151479-182582
29 overlap with 6 genes NG_000007.3:g.63632_71046del DEL Pathogenic
15061 GRCh37: 11:5247800-5255214
GRCh38: 11:5226570-5233984
30 LOC106804612, HBA2 NM_000517.6(HBA2):c.60del (p.His21fs) DEL Pathogenic
280127 rs886041399 GRCh37: 16:222971-222971
GRCh38: 16:172972-172972
31 LOC106804612, HBA2 NM_000517.6(HBA2):c.313T>C (p.Cys105Arg) SNV Pathogenic
804215 rs1263969213 GRCh37: 16:223483-223483
GRCh38: 16:173484-173484
32 LOC106804612, HBA2 NM_000517.6(HBA2):c.54del (p.Gly19fs) DEL Pathogenic
995799 rs1902037470 GRCh37: 16:222965-222965
GRCh38: 16:172966-172966
33 LOC106804613, HBA1 NM_000558.5(HBA1):c.2T>G (p.Met1Arg) SNV Pathogenic
915293 rs1316527998 GRCh37: 16:226717-226717
GRCh38: 16:176718-176718
34 LOC106804612, HBA2 NM_000517.6(HBA2):c.143del (p.Asp48fs) DEL Pathogenic
1698858 GRCh37: 16:223171-223171
GRCh38: 16:173172-173172
35 LOC106804612, HBA2 NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) SNV Pathogenic
15686 rs281864819 GRCh37: 16:222981-222981
GRCh38: 16:172982-172982
36 LOC106804612, HBA2 NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) SNV Pathogenic
Likely Pathogenic
15688 rs41328049 GRCh37: 16:223206-223206
GRCh38: 16:173207-173207
37 LOC106804613, HBA1 NM_000558.5(HBA1):c.283_300+3dup DUP Pathogenic
15879 rs1902161681 GRCh37: 16:227110-227111
GRCh38: 16:177111-177112
38 LOC106804613, HBA1 NM_000558.5(HBA1):c.196_228del (p.Ala66_Asp76del) DEL Pathogenic
15880 GRCh37: 16:227024-227056
GRCh38: 16:177025-177057
39 LOC106804613, HBA1 NM_000558.5(HBA1):c.237del (p.Asn79fs) DEL Pathogenic
619842 rs767911847 GRCh37: 16:227069-227069
GRCh38: 16:177070-177070
40 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic
15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
41 LOC106099062, LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic
15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
42 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic
Pathogenic
15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
43 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic
15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
44 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic
15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
45 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic
15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
46 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic
15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
47 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic
15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
48 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic
15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
49 HBB, LOC106099062, LOC107133510 NM_000518.4(HBB):c.-137C>A SNV Pathogenic
36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
50 LOC106804613, HBA1 NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) SNV Pathogenic
811900 rs63750751 GRCh37: 16:227339-227339
GRCh38: 16:177340-177340

Expression for Alpha-Thalassemia

Search GEO for disease gene expression data 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 blood microparticle GO:0072562 9.85 TFRC HBG2 HBB HBA2 HBA1
2 endocytic vesicle lumen GO:0071682 9.73 HBB HBA2 HBA1
3 hemoglobin complex GO:0005833 9.73 HBZ HBG2 HBG1 HBB HBA2 HBA1
4 haptoglobin-hemoglobin complex GO:0031838 9.4 HBZ HBG2 HBG1 HBB HBA2 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 10.1 HBZ HBG2 HBG1 HBB HBA2 HBA1
2 positive regulation of cell death GO:0010942 10.03 HBA1 HBA2 HBB HBG1 HBG2 HBZ
3 hydrogen peroxide catabolic process GO:0042744 9.93 HBZ HBG2 HBG1 HBB HBA2 HBA1
4 response to hydrogen peroxide GO:0042542 9.91 HBB HBA2 HBA1
5 acute-phase response GO:0006953 9.88 UGT1A1 TFRC EPO
6 response to nutrient GO:0007584 9.85 UGT1A1 TFRC EPO
7 nitric oxide transport GO:0030185 9.85 HBA1 HBA2 HBB
8 Sertoli cell development GO:0060009 9.78 SOX8 ATRX
9 oxygen transport GO:0015671 9.73 HBA1 HBA2 HBB HBG1 HBG2 HBZ
10 carbon dioxide transport GO:0015670 9.4 HBZ HBG2 HBG1 HBB HBA2 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 10.15 HBZ HBG2 HBG1 HBB HBA2 HBA1
2 peroxidase activity GO:0004601 10.1 HBZ HBG2 HBG1 HBB HBA2 HBA1
3 oxygen binding GO:0019825 10.03 HBA1 HBA2 HBB HBG1 HBG2 HBZ
4 oxygen carrier activity GO:0005344 9.93 HBZ HBG2 HBG1 HBB HBA2 HBA1
5 hemoglobin alpha binding GO:0031721 9.88 HBG2 HBG1 HBB
6 haptoglobin binding GO:0031720 9.73 HBA1 HBA2 HBB HBG1 HBG2 HBZ
7 organic acid binding GO:0043177 9.4 HBA1 HBA2 HBB HBG1 HBG2 HBZ

Sources for Alpha-Thalassemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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