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A-THAL
MCID: ALP101
MIFTS: 62

Alpha-Thalassemia (A-THAL)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Alpha-Thalassemia

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MalaCards integrated aliases for Alpha-Thalassemia:

Name: Alpha-Thalassemia 56 12 74 24 52 25 58 73 54 43 71
Alpha Thalassemia 12 52 25 29 6 15
Thalassemia, Alpha- 56 13
Alpha Thalassaemia 12 32
Alpha Plus Thalassemia 6
Thalassemias, Alpha- 56
Alpha^+^ Thalassemia 71
Thalassemia, Alpha 39
a-Thalassemia 52
Α-Thalassemia 25
Thalassemia 71
a-Thal 73

Characteristics:

Orphanet epidemiological data:

58
alpha-thalassemia
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:1099
OMIM 56 604131
ICD9CM 34 282.43
MeSH 43 D017085
NCIt 49 C34368
SNOMED-CT 67 68913001
ICD10 32 D56.0
MESH via Orphanet 44 D017085
ICD10 via Orphanet 33 D56.0
UMLS via Orphanet 72 C0002312 C1456873
Orphanet 58 ORPHA846
MedGen 41 C0002312
UMLS 71 C0002312 C0039730 C1456873
Sources

Summaries for Alpha-Thalassemia

About this section
Genetics Home Reference : 25 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. As a result of these serious health problems, most babies with this condition are stillborn or die soon after birth. 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). Some affected individuals also have bone changes such as overgrowth of the upper jaw and an unusually prominent forehead. 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 alpha-thalassemia/mental retardation syndrome, chromosome 16-related and alpha thalassemia-intellectual disability syndrome type 1, and has symptoms including edema, chest pain and angina pectoris. An important gene associated with Alpha-Thalassemia is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Factors involved in megakaryocyte development and platelet production. The drugs Sulfadoxine and Pyrimethamine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and liver, and related phenotypes are microcytic anemia and abnormal hemoglobin

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

NIH Rare Diseases : 52 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.

UniProtKB/Swiss-Prot : 73 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).

Wikipedia : 74 Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and... more...

More information from OMIM: 604131
GeneReviews: NBK1435
Sources

Related Diseases for Alpha-Thalassemia

About this section

Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia
Beta-Thalassemia and Related Diseases Alpha-Thalassemia and Related Diseases

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

(show top 50) (show all 246)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 35.5 HBA2 HBA1
2 alpha thalassemia-intellectual disability syndrome type 1 35.4 SOX8 HBA2 HBA1 ATRX
3 alpha-thalassemia/mental retardation syndrome, x-linked 35.3 TP53 HELLS H2BC21 DAXX ATRX
4 hemoglobin h disease 34.3 TFRC LOC106804613 LOC106804612 HBZ HBG2 HBB
5 hydrops fetalis, nonimmune 34.0 HBB HBA2 HBA1
6 thalassemia 32.9 UGT1A1 TFRC LOC106804613 LOC106804612 KLF1 HP
7 iron metabolism disease 31.7 TFRC HBB HBA2 G6PD EPO
8 sickle cell disease 31.7 HBG2 HBG1 HBB HBA2 G6PD EPO
9 sickle cell anemia 31.6 UGT1A1 HBG2 HBG1 HBB HBA2 HBA1
10 hypochromic microcytic anemia 31.6 TFRC HBB HBA2 HBA1
11 beta-thalassemia 31.5 UGT1A1 TFRC KLF1 HBG2 HBG1 HBB
12 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 31.4 TFRC HP HBB HBA2 G6PD EPO
13 hemoglobinopathy 31.4 UGT1A1 TFRC KLF1 HP HBG1 HBB
14 microcytic anemia 31.3 TFRC HBB HBA2 HBA1 G6PD EPO
15 deficiency anemia 31.3 TFRC HP HBG2 HBB HBA2 HBA1
16 iron deficiency anemia 31.2 TFRC HBG2 HBA1 G6PD EPO
17 cholelithiasis 31.2 UGT1A1 HP HBB
18 glucosephosphate dehydrogenase deficiency 31.1 UGT1A1 HP HBG2 HBB G6PD
19 bilirubin metabolic disorder 31.1 UGT1A1 HP HBG2 G6PD
20 plasmodium falciparum malaria 31.1 HP HBB G6PD
21 erythroleukemia, familial 31.0 KLF1 HBG1 HBB EPO
22 acute chest syndrome 31.0 HBB HBA2 G6PD
23 hemolytic anemia 30.9 UGT1A1 TFRC KLF1 HP HBG2 HBG1
24 malaria 30.9 TP53 TFRC HP HBB HBA2 HBA1
25 gilbert syndrome 30.8 UGT1A1 HP G6PD
26 splenic sequestration 30.8 HP HBB EPO
27 hemoglobin zurich 30.8 LOC106804612 HBB HBA2
28 fetal hemoglobin quantitative trait locus 1 30.7 HBG2 HBG1 HBB
29 methemoglobinemia 30.6 HP HBG2 HBB G6PD
30 congenital dyserythropoietic anemia 30.6 TFRC KLF1 EPO
31 hereditary spherocytosis 30.6 UGT1A1 TFRC KLF1 HP HBG2 HBG1
32 megaloblastic anemia 30.5 TP53 TFRC HP
33 neutropenia 30.3 UGT1A1 TP53 TFRC EPO
34 congenital hemolytic anemia 29.8 TFRC KLF1 HP HBG2 HBG1 HBB
35 alpha thalassemia-x-linked intellectual disability syndrome 13.1
36 alpha-thalassemia myelodysplasia syndrome 12.9
37 alpha-thalassemia-abnormal morphogenesis 12.6
38 alpha-thalassemia and related diseases 12.6
39 mental retardation-hypotonic facies syndrome, x-linked, 1 11.9
40 glutathione peroxidase deficiency 10.7 HBB HBA2 HBA1
41 methemoglobinemia, beta-globin type 10.7 HBB HBA2 HBA1
42 erythrocytosis, familial, 8 10.7 HBB HBA2 HBA1
43 erythrocytosis, familial, 7 10.6 LOC106804613 LOC106804612 HBA2 HBA1
44 acquired methemoglobinemia 10.6 HBG2 G6PD
45 gastric neuroendocrine neoplasm 10.6 DAXX ATRX
46 urethra transitional cell carcinoma 10.6 TP53 HBZ
47 spherocytosis, type 4 10.6 KLF1 HBG2 HBB
48 hypoglycemic coma 10.6 HBA2 HBA1
49 neonatal anemia 10.6 KLF1 HBA2 EPO
50 congenital methemoglobinemia 10.6 HBG2 G6PD

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



Diseases related to Alpha-Thalassemia
Sources

Symptoms & Phenotypes for Alpha-Thalassemia

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Human phenotypes related to Alpha-Thalassemia:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001935
2 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011902
3 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
4 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
5 hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001789
6 cholelithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001081
7 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
8 hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001878
9 hypersplenism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001971
10 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
11 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
12 anemia 58 Occasional (29-5%)
13 hypochromic microcytic anemia 31 HP:0004840
14 reduced alpha/beta synthesis ratio 31 HP:0011907

Clinical features from OMIM:

604131

UMLS symptoms related to Alpha-Thalassemia:


edema, chest pain, angina pectoris

MGI Mouse Phenotypes related to Alpha-Thalassemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 ATRX DAXX EPO G6PD HELLS KLF1
Sources

Drugs & Therapeutics for Alpha-Thalassemia

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

(show top 50) (show all 300)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
2
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
3
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
4
Zinc Approved, Investigational Phase 4 7440-66-6 32051
5
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
6
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
7
Ribavirin Approved Phase 4 36791-04-5 37542
8
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
9
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
10
Ledipasvir Approved Phase 4 1256388-51-8 67505836
11
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
12
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
13
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
14
Metformin Approved Phase 4 657-24-9 14219 4091
15
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
16
Deferiprone Approved Phase 4 30652-11-0 2972
17
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
18
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
19
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
20
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
21 Fanasil, pyrimethamine drug combination Phase 4
22 Antiparasitic Agents Phase 4
23 Antiprotozoal Agents Phase 4
24 Antimalarials Phase 4
25 Interferon alpha-2 Phase 4
26 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
27 interferons Phase 4
28 Interferon-alpha Phase 4
29 Ledipasvir, sofosbuvir drug combination Phase 4
30 Folic Acid Antagonists Phase 4
31 Phosphodiesterase Inhibitors Phase 4
32 Phosphodiesterase 5 Inhibitors Phase 4
33 Vasodilator Agents Phase 4
34 Sildenafil Citrate Phase 4 171599-83-0
35 Hypoglycemic Agents Phase 4
36 Iron Supplement Phase 4
37 Hormones Phase 4
38 Calcium, Dietary Phase 4
39 Trace Elements Phase 4
40 Micronutrients Phase 4
41 Vitamins Phase 4
42 Nutrients Phase 4
43 Calciferol Phase 4
44 Ergocalciferols Phase 4
45 Hydroxycholecalciferols Phase 4
46 Vitamin D2 Phase 4
47
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
48
Calcium Nutraceutical Phase 4 7440-70-2 271
49
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
50
Metoprolol Approved, Investigational Phase 2, Phase 3 37350-58-6, 51384-51-1 4171

Interventional clinical trials:

(show top 50) (show all 434)
# Name Status NCT ID Phase Drugs
1 Intermittent Treatment With Sulfadoxine-Pyrimethamine for Malaria Control in Children: A Randomised, Double Blind, and Placebo-Controlled Clinical Trial Unknown status NCT00168948 Phase 4 Sulfadoxin (12.5) Pyrimethamine (250 mg)
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 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
4 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
5 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
6 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
7 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
8 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
9 Safety of Deferasirox (ICL670) and Deferoxamine (Desferal or DFO) Combined Chelation Therapy in Patients With Transfusion Dependent Thalassemia and Iron Overload Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
10 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
11 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
12 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
13 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
14 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)
15 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
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 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
18 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
19 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
20 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
21 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)
22 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
23 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
24 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]
25 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children: a Randomized Double Blinded Placebo Controlled Trial Completed NCT01766310 Phase 4 Folic Acid;placebo
26 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) Recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
27 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
28 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
29 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
30 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Recruiting NCT02984475 Phase 4 Metformin
31 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
32 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Active, not recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
33 Is Iron Supplementation Harmful in Populations Where Iron Deficiency is Not the Cause of Anemia? A 12 Week Randomized Controlled Trial in Cambodia Active, not recruiting NCT04017598 Phase 4
34 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) Enrolling by invitation NCT03992001 Phase 4
35 Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
36 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 Enrolling by invitation NCT03176849 Phase 4
37 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
38 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
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 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
41 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
42 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
43 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
44 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
45 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
46 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
47 A Randomized Controlled Study to Evaluate Efficacy and Safety of S 303 Treated Red Blood Cells (RBC) in Subjects With Thalassemia Major Requiring Chronic RBC Transfusion Completed NCT01740531 Phase 3
48 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
49 The Effect of Metoprolol Succinate on the Cardiac Function of Patients With Thalassemia Cardiomyopathy a Double Blind Randomized Study Completed NCT01863173 Phase 2, Phase 3 metoprolol;placebo
50 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine

Search NIH Clinical Center for Alpha-Thalassemia

Cochrane evidence based reviews: alpha-thalassemia

Sources

Genetic Tests for Alpha-Thalassemia

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Genetic tests related to Alpha-Thalassemia:

# Genetic test Affiliating Genes
1 Alpha Thalassemia 29 HBA1 HBA2 HBB
Sources

Anatomical Context for Alpha-Thalassemia

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MalaCards organs/tissues related to Alpha-Thalassemia:

40
Bone, Heart, Liver, Bone Marrow, Skin, T Cells, Testes
Sources

Publications for Alpha-Thalassemia

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Articles related to Alpha-Thalassemia:

(show top 50) (show all 1870)
# Title Authors PMID Year
1
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. 24 56 61
9516118 1998
2
Three new alpha-thalassemia point mutations ascertained through newborn screening. 61 6
16798638 2006
3
Alpha-Thalassemia 6 61
20301608 2005
4
A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family. 61 6
15481894 2004
5
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. 61 6
15481895 2004
6
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. 61 6
15008259 2004
7
A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)]. 61 6
15658192 2004
8
Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. 54 61 24
12730694 2003
9
Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene. 6 61
11791872 2001
10
Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population. 61 6
8756078 1996
11
Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG). 6 61
3597771 1987
12
Initiation codon mutation as a cause of alpha thalassemia. 6 61
6490612 1984
13
Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. 6 61
6725558 1984
14
Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2. 61 6
6882779 1983
15
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. 6
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Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment. 61 24
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17
Hb H disease: clinical course and disease modifiers. 61 24
20008179 2009
18
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. 24 61
18076105 2008
19
Refinement of the genetic cause of ATR-16. 24 61
17598130 2007
20
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. 61 24
16728641 2006
21
Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. 24 61
15358626 2005
22
Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. 61 24
14592816 2004
23
Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome. 61 24
14576055 2004
24
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). 61 24
12858175 2003
25
The Dutch IVS-I-116 (A --> G) (alpha2) thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha3.7 deletion defect. 6
12603095 2003
26
Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. 56
11283697 2001
27
De novo 16p deletion: ATR-16 syndrome. 24 61
9375730 1997
28
An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families. 6
8943885 1996
29
ACOG technical bulletin. Hemoglobinopathies in pregnancy. Number 220--February 1996 (replaces no. 185, October 1993). Committee on Technical Bulletins of the American College of Obstetricians and Gynecologists. 6
8735302 1996
30
alpha-Thalassaemia. 56
8353312 1993
31
HbH disease in Sardinia: molecular, hematological and clinical aspects. 24 61
1414154 1992
32
Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex. 24 61
6255436 1980
33
A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassaemia. 24
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34
Homozygous α-thalassemia: Challenges surrounding early identification, treatment, and cure. 24
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35
Optimizing chronic transfusion therapy for survivors of hemoglobin Barts hydrops fetalis. 24
26732098 2016
36
The α-thalassemias. 24
25390741 2014
37
State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies. 24
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38
Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled study. 24
22589472 2012
39
Iron overload in non-transfusion-dependent thalassemia: a clinical perspective. 24
22631036 2012
40
Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease. 24
20864588 2010
41
The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. 61 54
20181291 2010
42
Molecular characterization of alpha-Thalassemia in Adana, Turkey: A single center study. 61 54
20332613 2010
43
Diagnostic value of zinc protoporphyrin in a screening strategy for alpha-thalassemia. 61 54
19187279 2009
44
Clinical and hematological phenotype of homozygous hemoglobin E: revisit of a benign condition with hidden reproductive risk. 61 54
19323016 2009
45
G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia. 61 54
18772456 2008
46
Response to hydroxyurea therapy in beta-thalassemia. 61 54
18181203 2008
47
A multicenter trial of the effectiveness of zeta-globin enzyme-linked immunosorbent assay and hemoglobin H inclusion body screening for the detection of alpha0-thalassemia trait. 61 54
18208812 2008
48
A family with multiple mutations and sequence variations in the alpha- and beta-globin gene clusters. 61 54
18076350 2008
49
A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases. 54 61
18654886 2008
50
Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX. 61 54
17609377 2007
Sources

Variations for Alpha-Thalassemia

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ClinVar genetic disease variations for Alpha-Thalassemia:

6 (show top 50) (show all 75) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBA1 , HBA2 , LOC106804612 , LOC106804613 deletion Pathogenic 433555 16:172007-177537
2 HBA2 NM_000517.6(HBA2):c.69del (p.Glu24fs)deletion Pathogenic 439123 rs1270810159 16:222980-222980 16:172981-172981
3 HBA1 NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)SNV Pathogenic 439103 rs33964317 16:226758-226758 16:176759-176759
4 HBA1 NC_000016.10:g.(?_151209)_(182142_?)deldeletion Pathogenic 487442 16:201208-232141 16:151209-182142
5 HBA1 NC_000016.10:g.(?_169780)_(182142_?)deldeletion Pathogenic 487448 16:219779-232141 16:169780-182142
6 HBA1 , HBA2 GRCh37/hg19 16p13.3(chr16:221962-228406)copy number loss Pathogenic 625828 16:221962-228406
7 HBA1 , HBA2 , HBM , HBQ1 GRCh37/hg19 16p13.3(chr16:216075-231021)copy number loss Pathogenic 625829 16:216075-231021
8 HBA1 NM_000558.5(HBA1):c.92_93AG[1] (p.Arg32fs)short repeat Pathogenic 801167 16:226806-226807 16:176807-176808
9 HBA2 NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)SNV Pathogenic 804215 16:223483-223483 16:173484-173484
10 HBA1 NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)SNV Pathogenic 811900 16:227339-227339 16:177340-177340
11 HBA1 NM_000558.5(HBA1):c.396dup (p.Val133fs)duplication Pathogenic 869325 rs34021271 16:227376-227377 16:177377-177378
12 HBA1 , HBA2 , HBQ1 , LOC106804612 , LOC106804613 NC_000016.10:g.(168531_169756)_(182770_183028)deldeletion Pathogenic 869332 16:168531-183028
13 HBA1 , HBA2 , HBQ1 , LOC106804612 , LOC106804613 NC_000016.10:g.(169756_170100)_(179044_181595)deldeletion Pathogenic 869333 16:169756-181595
14 HBA1 , HBA2 , HBZ NC_000016.10:g.151479_182582deldeletion Pathogenic 869337
15 HBA1 , HBA2 NC_000016.10:g.171847_181556deldeletion Pathogenic 869217
16 HBA1 , HBA2 NC_000016.10:g.172001_181401deldeletion Pathogenic 869218
17 HBA1 NM_000558.5(HBA1):c.2T>G (p.Met1Arg)SNV Pathogenic 915293 16:226717-226717 16:176718-176718
18 HBA1 NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa)SNV Pathogenic 15724 rs33964317 16:226758-226758 16:176759-176759
19 HBA1 HBA1, 1-BP DEL, 354Cdeletion Pathogenic 15892
20 HBB NM_000518.5(HBB):c.52A>T (p.Lys18Ter)SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970
21 HBB NM_000518.5(HBB):c.118C>T (p.Gln40Ter)SNV Pathogenic 15402 rs11549407 11:5248004-5248004 11:5226774-5226774
22 HBB NM_000518.5(HBB):c.92+1G>ASNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
23 HBB NM_000518.5(HBB):c.315+1G>ASNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
24 HBB NM_000518.5(HBB):c.92+5G>CSNV Pathogenic 15447 rs33915217 11:5248155-5248155 11:5226925-5226925
25 HBB NM_000518.5(HBB):c.93-21G>ASNV Pathogenic 15454 rs35004220 11:5248050-5248050 11:5226820-5226820
26 HBB NM_000518.5(HBB):c.316-106C>GSNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
27 HBB NM_000518.5(HBB):c.-79A>GSNV Pathogenic 15469 rs34598529 11:5248330-5248330 11:5227100-5227100
28 HBA2 NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)SNV Pathogenic 15624 rs41464951 16:223597-223597 16:173598-173598
29 HBA2 NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)SNV Pathogenic 15630 rs41397847 16:223547-223547 16:173548-173548
30 HBA2 NM_000517.6(HBA2):c.329T>G (p.Leu110Arg)SNV Pathogenic 15632 rs41479844 16:223499-223499 16:173500-173500
31 HBA2 NM_000517.6(HBA2):c.2T>C (p.Met1Thr)SNV Pathogenic 15643 rs111033603 16:222913-222913 16:172914-172914
32 HBA2 NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)SNV Pathogenic 15644 rs33987053 16:223519-223519 16:173520-173520
33 HBA2 NM_000517.6(HBA2):c.1A>G (p.Met1Val)SNV Pathogenic 15645 rs121909803 16:222912-222912 16:172913-172913
34 HBA2 NM_000517.6(HBA2):c.301-1G>ASNV Pathogenic 15668 rs587776827 16:223470-223470 16:173471-173471
35 HBA2 NM_000517.6(HBA2):c.96-2A>GSNV Pathogenic 15679 rs41457746 16:223122-223122 16:173123-173123
36 HBA1 , HBA2 , HBZ NC_000016.10:g.147601_179801deldeletion Pathogenic 869334
37 HBA1 , HBA2 , HBZ NC_000016.10:g.147937_179144deldeletion Pathogenic 869335
38 HBA1 , HBA2 , HBZ NC_000016.10:g.150002_180002deldeletion Pathogenic 869336
39 HBA1 , HBA2 NC_000016.10:g.158101_179001deldeletion Pathogenic 869215
40 HBA1 , HBA2 NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCAindel Pathogenic 869216
41 HBA2 NM_000517.6(HBA2):c.377T>A (p.Leu126Gln)SNV Pathogenic 869221 16:223547-223547 16:173548-173548
42 HBA2 NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)SNV Pathogenic 15688 rs41328049 16:223206-223206 16:173207-173207
43 HBA1 , HBA2 , HBM , LOC106804612 , LOC106804613 NM_005331.4(HBQ1):c.-16686_-286deldeletion Pathogenic 38633 16:213800-230200 16:163801-180201
44 HBA1 , HBA2 , HBM , HBZ , LOC106804612 , LOC106804613 NM_005332.2(HBZ):c.330_*22601deldeletion Pathogenic 38635 16:204300-227000 16:154301-177001
45 HBA1 , HBA2 , LOC106804612 , LOC106804613 NC_000016.9:g.223300_227103deldeletion Pathogenic 38636 16:223300-227103 16:173301-177104
46 HBA2 NM_000517.6(HBA2):c.92_93AG[1] (p.Arg32fs)short repeat Pathogenic 375744 rs1057519637 16:223002-223003 16:173003-173004
47 HBA2 NM_000517.6(HBA2):c.95+2_95+6deldeletion Pathogenic 375746 rs41474145 16:223004-223008 16:173005-173009
48 HBA1 NM_000558.3(HBA1):c.187_189delGTG (p.Val63del)deletion Pathogenic 15875 rs35672478 16:227018-227020 16:177019-177021
49 HBA1 HBA1, 21-BP INS-DUPduplication Pathogenic 15879
50 HBA1 HBA1, 33-BP DELdeletion Pathogenic 15880
Sources

Expression for Alpha-Thalassemia

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

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Pathways related to Alpha-Thalassemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Glucose / Energy Metabolism 4
12.16 UGT1A1 HBG1 HBB G6PD
2
Factors involved in megakaryocyte development and platelet production 65
11.75 TP53 HBG2 HBG1 HBB
3
Malaria 36
11.2 HBB HBA2 HBA1
4
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 10.94 HP HBB HBA2 HBA1
5
African trypanosomiasis 36
10.9 HBB HBA2 HBA1
6
O2/CO2 exchange in erythrocytes 65
Show member pathways
 10.68 HBB HBA2 HBA1
Sources

GO Terms for Alpha-Thalassemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.01 TFRC HP HBZ HBB HBA2 HBA1
2 blood microparticle GO:0072562 9.73 TFRC HP HBG2 HBB HBA2 HBA1
3 PML body GO:0016605 9.54 TP53 DAXX ATRX
4 endocytic vesicle lumen GO:0071682 9.46 HP HBB HBA2 HBA1
5 hemoglobin complex GO:0005833 9.43 HBZ HBG2 HBG1 HBB HBA2 HBA1
6 pericentric heterochromatin GO:0005721 9.32 HELLS ATRX
7 haptoglobin-hemoglobin complex GO:0031838 9.17 HP HBZ HBG2 HBG1 HBB HBA2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.91 TP53 TFRC SOX8 HELLS EPO
2 receptor-mediated endocytosis GO:0006898 9.77 TFRC HP HBB HBA2 HBA1
3 nucleosome assembly GO:0006334 9.71 H2BC21 DAXX ATRX
4 cellular oxidant detoxification GO:0098869 9.7 HP HBZ HBG2 HBG1 HBB HBA2
5 bicarbonate transport GO:0015701 9.63 HBB HBA2 HBA1
6 response to hydrogen peroxide GO:0042542 9.62 HP HBB HBA2 HBA1
7 acute-phase response GO:0006953 9.61 UGT1A1 HP EPO
8 erythrocyte maturation GO:0043249 9.58 HBZ G6PD EPO
9 positive regulation of cell death GO:0010942 9.56 HP HBB HBA2 HBA1
10 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.52 TP53 ATRX
11 Sertoli cell development GO:0060009 9.49 SOX8 ATRX
12 response to salt stress GO:0009651 9.48 TP53 EPO
13 hydrogen peroxide catabolic process GO:0042744 9.43 HBZ HBG2 HBG1 HBB HBA2 HBA1
14 oxygen transport GO:0015671 9.1 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 9.85 HBZ HBG2 HBG1 HBB HBA2 HBA1
2 peroxidase activity GO:0004601 9.8 HBZ HBG2 HBG1 HBB HBA2 HBA1
3 oxygen binding GO:0019825 9.73 HBZ HBG2 HBG1 HBB HBA2 HBA1
4 oxygen carrier activity GO:0005344 9.63 HBZ HBG2 HBG1 HBB HBA2 HBA1
5 hemoglobin alpha binding GO:0031721 9.58 HBG2 HBG1 HBB
6 hemoglobin binding GO:0030492 9.43 HP HBB
7 organic acid binding GO:0043177 9.43 HBZ HBG2 HBG1 HBB HBA2 HBA1
8 haptoglobin binding GO:0031720 9.1 HBZ HBG2 HBG1 HBB HBA2 HBA1
Sources

Sources for Alpha-Thalassemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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