Alpha-Thalassemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Nephrological diseases Endocrine diseases Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

Thalassaemia

Alpha thalassaemia

ICD11: ³³

Diseases of the blood or blood-forming organs

Anaemias or other erythrocyte disorders

Thalassaemias

Alpha thalassaemia

Alpha thalassaemia, unspecified

Other specified alpha thalassaemia

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

SNOMED-CT via HPO ⁶⁹ 109995007 128623006 16294009 more

ICD11 ³³ 531667506 531667506/other 531667506/unspecified

UMLS ⁷¹ C0002312 C0039730 C1456873

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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

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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:

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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

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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

Metformin

Approved

Phase 4

1115-70-4, 657-24-9

4091

Peginterferon alfa-2b

Approved

Phase 4

215647-85-1, 99210-65-8

Zoledronic acid

Approved

Phase 4

118072-93-8

68740

Ledipasvir

Approved

Phase 4

1256388-51-8

67505836

Sofosbuvir

Approved

Phase 4

1190307-88-0

45375808

Zinc sulfate

Approved, Investigational

Phase 4

7733-02-0

Hyaluronic acid

Approved, Vet_approved

Phase 4

9004-61-9

53477741

Velpatasvir

Approved, Investigational

Phase 4

1377049-84-7

77335690 67683363

Peginterferon alfa-2a

Approved, Investigational

Phase 4

198153-51-4

Ribavirin

Approved

Phase 4

36791-04-5

37542

Mycophenolic acid

Approved, Investigational

Phase 4

24280-93-1

446541

Tacrolimus

Approved, Investigational

Phase 4

104987-11-3

6473866 445643

Sodium citrate

Approved, Investigational

Phase 4

68-04-2

23431961

Sildenafil

Approved, Investigational

Phase 4

139755-83-2, 171599-83-0

5212 135398744

Basiliximab

Approved, Investigational

Phase 4

179045-86-4

Methotrexate

Approved

Phase 4

1959-05-2, 59-05-2

4112 126941

Lactitol

Approved, Investigational

Phase 4

585-86-4

157355

Panobinostat

Approved, Investigational

Phase 4

404950-80-7

6918837

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 4

67-97-0, 1406-16-2

5280795 10883523

Calcifediol

Approved, Nutraceutical

Phase 4

19356-17-3

5283731

Ergocalciferol

Approved, Nutraceutical

Phase 4

50-14-6

5280793

Arginine

Approved, Investigational, Nutraceutical

Phase 4

74-79-3

6322

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 4

77-92-9

311

Vaccines

Phase 4

Interferon alpha-2

Phase 4

Interferon-alfa-1b

Phase 4

Hormones

Phase 4

Vitamins

Phase 4

Trace Elements

Phase 4

Micronutrients

Phase 4

Ledipasvir, sofosbuvir drug combination

Phase 4

Calcium, Dietary

Phase 4

Heptavalent Pneumococcal Conjugate Vaccine

Phase 4

Calciferol

Phase 4

Sofosbuvir-velpatasvir drug combination

Phase 4

interferons

Phase 4

Interferon-alpha

Phase 4

Vitamin D2

Phase 4

3249

Ergocalciferols

Phase 4

Hydroxycholecalciferols

Phase 4

Immunoglobulins, Intravenous

Phase 4

Calcineurin Inhibitors

Phase 4

Antitubercular Agents

Phase 4

Pharmaceutical Solutions

Phase 4

Phosphodiesterase Inhibitors

Phase 4

Phosphodiesterase 5 Inhibitors

Phase 4

Vasodilator Agents

Phase 4

Citrate

Phase 4

Immunoglobulin Fc Fragments

Phase 4

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

Sources

Genetic Tests for Alpha-Thalassemia

Genetic tests related to Alpha-Thalassemia:

#	Genetic test	Affiliating Genes
1	Alpha Thalassemia ²⁸	HBA1 HBA2 HBB

Sources

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

Sources

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	Piel FB...Weatherall DJ	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	Giordano PC...Harteveld CL	17486500	2007
3	Hemoglobin H disease: not necessarily a benign disorder. ²⁴ ⁵	Chui DH...Chan V	12393486	2003
4	Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel. ⁵³ ⁶² ⁵	Oron-Karni V...Rund D	11074535	2000
5	Identification of a Novel 9.7 kb Deletion Causing α0-Thalassemia in Two Pregnant Women in Southern China. ⁶² ⁵	Lin L...Qiu X	30864493	2018
6	A Novel 31.1 kb α-Thalassemia Deletion (- -MEX3) Found in a Mexican Family. ⁶² ⁵	Renteria-Lopez VM...Ibarra-Cortes B	28791910	2017
7	Evaluation of α-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran. ⁶² ⁵	Khosravi A...Magaji-Hamid K	26878087	2016
8	Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia. ⁶² ⁵	Brieghel C...Petersen J	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	Deshpande P...Edison ES	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	Alauddin H...Othman A	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	Joly P...Francina A	24111644	2014
12	Distribution of alpha thalassaemia gene variants in diverse ethnic populations in malaysia: data from the institute for medical research. ⁶² ⁵	Ahmad R...Hassan S	24025420	2013
13	Diagnostic testing for α-globin gene disorders in a heterogeneous North American population. ⁶² ⁵	Waye JS...Eng B	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	Finlayson J...Beilby J	22943743	2012
15	Gene test review. Alpha-thalassemia. ⁶² ⁵⁷	Galanello R...Cao A	21381239	2011
16	Molecular lesion frequency of hemoglobin gene disorders in Taiwan. ⁶² ⁵	Liu SC...Lin CY	21599435	2011
17	[Analysis of the phenotype-genotype relationship of Hb Constant Spring]. ⁶² ⁵	Sun MN...Xu XM	20931520	2010
18	Molecular diversity of hemoglobin H disease in India. ⁶² ⁵	Nadkarni AH...Colah RB	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	Pichanun D...Svasti S	21077767	2010
20	Detection of a thalassemic alpha-chain variant (Hemoglobin Groene Hart) by reversed-phase liquid chromatography. ⁶² ⁵	Zanella-Cleon I...Francina A	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	Moradkhani K...Prehu C	18654893	2008
22	Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. ⁶² ⁵	Charoenkwan P...Sanguansermsri T	17164653	2006
23	Three new alpha-thalassemia point mutations ascertained through newborn screening. ⁶² ⁵	Eng B...Waye JS	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	Siala H...Krishnamoorthy R	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	Harteveld CL...Giordano PC	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	Viprakasit V...Higgs DR	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	Harteveld CL...Giordano PC	15008259	2004
28	A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)]. ⁶² ⁵	Dutly F...Frischknecht H	15658192	2004
29	Dinucleotide deletion in -alpha3.7 allele causes a severe form of alpha+ thalassaemia. ⁶² ⁵	Viprakasit V...May A	12890155	2003
30	Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene. ⁶² ⁵	Waye JS...Chui DH	11791872	2001
31	A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia. ⁶² ⁵	Noguera NI...Villegas A	11570724	2001
32	Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia. ⁶² ⁵	Chong SS...Higgs DR	11017952	2000
33	PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions. ⁶² ⁵	Eng B...Waye JS	10602170	2000
34	Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia. ⁶² ⁵	Traeger-Synodinos J...Bernini LF	10569720	1999
35	Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. ⁶² ⁵⁷	Chui DH...Waye JS	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	Harteveld CL...Bernini LF	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	Smetanina NS...Huisman TH	8781536	1996
38	Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population. ⁶² ⁵	Ayala S...Vives-Corrons JL	8756078	1996
39	Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation). ⁶² ⁵	Villegas A...Lozano M	7639274	1995
40	A novel polyadenylation signal mutation in the alpha 2-globin gene causing alpha thalassaemia. ⁶² ⁵	Harteveld CL...Bernini LF	7947237	1994
41	Characterization of a new alpha-thalassemia-1 mutation in a Spanish family. ⁶² ⁵	Villegas A...Espinos D	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	Curuk MA...Huisman TH	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	Lamb J...Higgs DR	8460633	1993
44	alpha-Thalassaemia. ⁶² ⁵⁷	Higgs DR	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	Fei YJ...Huisman TH	1553958	1992
46	Alpha thalassaemia in two Spanish families. ⁶² ⁵	Villegas A...Higgs DR	2318293	1990
47	Characterization of a new alpha-thalassemia-1 deletion in a Spanish family. ⁶² ⁵	Gonzalez-Redondo JM...Ricard P	2544542	1989
48	Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL). ⁶² ⁵	Fischel-Ghodsian N...Higgs DR	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	Safaya S...Rieder RF	2831226	1988
50	An alpha-globin gene initiation codon mutation in a black family with HbH disease. ⁶² ⁵	Olivieri NF...Orkin SH	3620699	1987

Sources

Genes for Alpha-Thalassemia

Genes related to Alpha-Thalassemia (9 elite genes):

(show top 50) (show all 104)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	1064.66	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	2298455 2544542 2566576 (more) 3177365 3597771 3620699 4944483 6490612 6946451 7151175 7327587 7639274 8460633 8555062 8756078 8943885 9099846 10722113 11074535 11570724 12393486 12603095 12890155 15481894 15481895 15658192 17164653 18654893 20931520 21077767 22943743 23181747 24829075 25897478 26114741 28838269 7947237 8237999 23517369 26193977 26365411 10569721 9544971 11960579 12730694 16910233 11283524 19187279 8781443 14757425 17486500 16533721 20332613 17589844 1737089 9494047 18654886 11042028 1715793 15365991 9005686 9858792 10206681
2	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	1053.15	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	2544542 2566576 2831226 (more) 6725558 6882779 7639274 8460633 9099846 10569720 11791872 12890155 14978697 15008259 16798638 17486500 18420733 19349619 24111644 26114741 28838269 11074535 26878087 27821014 28865746
3	HBB	Hemoglobin Subunit Beta	Protein Coding	562.04	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Proteins (show sections)	20181291 9668554 15946310 (more) 18181203 9640605 11422410 7703040 1737089 10926923
4	LOC106804612	Hemoglobin Subunit Alpha 2 Recombination Region	Functional Element	442.55	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications Summaries (show sections)	2298455 3177365 3597771 (more) 3620699 4944483 6490612 6946451 7151175 7327587 8555062 8756078 8943885 10722113 11074535 11570724 12393486 12603095 15481894 15481895 15658192 17164653 18654893 20931520 21077767 22943743 23181747 24829075 25897478 7947237 8237999 23517369 26193977 26365411
5	LOC106804613	Hemoglobin Subunit Alpha 1 Recombination Region	Functional Element	442.55	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications Summaries (show sections)	2831226 6725558 6882779 (more) 10569720 11791872 14978697 15008259 16798638 17486500 18420733 19349619 24111644 11074535 26878087 27821014 28865746
6	HBZ	Hemoglobin Subunit Zeta	Protein Coding	435.06	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Proteins (show sections)	2566576 8460633 9099846 (more) 26114741 9544971 18208812 1329692 1975558 1627804 16305964
7	LOC106099062	HBB Recombination Region	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵
8	LOC107133510	Origin Of Replication At HBB	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵
9	LOC110006319	Beta-Globin Gene 3' Regulatory Region	Functional Element	400	Pathogenic ⁵
10	ATRX	ATRX Chromatin Remodeler	Protein Coding	59.68	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	8644709 9043863 10398234 (more) 16480427 17296936 17609377 16212558 12953102 15350606 11069290
11	HBG1	Hemoglobin Subunit Gamma 1	Protein Coding	31.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Proteins (show sections)	7703040 18076350
12	G6PD	Glucose-6-Phosphate Dehydrogenase	Protein Coding	23.65	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18772456 9549232 19323016 (more) 17344674 10773920 9841856 18027811 9322280 17167252 8822334 8629122 10825041 10762587
13	DAXX	Death Domain Associated Protein	Protein Coding	22.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16406523
14	HELLS	Helicase, Lymphoid Specific	Protein Coding	19.24	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9192813 9043863
15	UGT1A1	UDP Glucuronosyltransferase Family 1 Member A1	Protein Coding	18.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16628735
16	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	15.19	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	KLF1	KLF Transcription Factor 1	Protein Coding	14.38	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	TFRC	Transferrin Receptor	Protein Coding	13.83	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	SOX8	SRY-Box Transcription Factor 8	Protein Coding	13.62	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
20	EPO	Erythropoietin	Protein Coding	13.02	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	HP	Haptoglobin	Protein Coding	12.99	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	H2BC21	H2B Clustered Histone 21	Protein Coding	12.58	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	NSD1	Nuclear Receptor Binding SET Domain Protein 1	Protein Coding	12.38	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	VCAM1	Vascular Cell Adhesion Molecule 1	Protein Coding	12.1	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	ARHGAP26	Rho GTPase Activating Protein 26	Protein Coding	11.9	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	TNF	Tumor Necrosis Factor	Protein Coding	11.66	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	GDF15	Growth Differentiation Factor 15	Protein Coding	11.61	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	H2AC18	H2A Clustered Histone 18	Protein Coding	10.6	DISEASES inferred ¹⁴ ¹⁴
29	HBE1	Hemoglobin Subunit Epsilon 1	Protein Coding	9.29	DISEASES inferred ¹⁴
30	HBA-LCR	Alpha-Globin Locus Control Region	Functional Element	8.5	GeneCards inferred via : Publications (show sections)
31	HBHR	Alpha-Thalassemia/Mental Retardation Syndrome, Type 1	Genetic Locus	8.34	GeneCards inferred via : Gene name (show sections)
32	HBB-LCR	Beta-Globin Locus Control Region	Functional Element	7.95	GeneCards inferred via : Publications (show sections)
33	HBQ1	Hemoglobin Subunit Theta 1	Protein Coding	7.84	DISEASES inferred ¹⁴
34	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	7.61	DISEASES inferred ¹⁴ ¹⁴
35	TRIM22	Tripartite Motif Containing 22	Protein Coding	7.56	GeneCards inferred via : Publications (show sections)
36	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	7.36	DISEASES inferred ¹⁴
37	HFE	Homeostatic Iron Regulator	Protein Coding	7.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17160266
38	BCL11A	BCL11 Transcription Factor A	Protein Coding	7.33	DISEASES inferred ¹⁴
39	LUC7L	LUC7 Like	Protein Coding	7.22	DISEASES inferred ¹⁴
40	HBD	Hemoglobin Subunit Delta	Protein Coding	7.16	DISEASES inferred ¹⁴
41	NPRL3	NPR3 Like, GATOR1 Complex Subunit	Protein Coding	7.03	DISEASES inferred ¹⁴
42	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	6.87	DISEASES inferred ¹⁴
43	H3-3A	H3.3 Histone A	Protein Coding	6.83	DISEASES inferred ¹⁴
44	H3-3B	H3.3 Histone B	Protein Coding	6.82	DISEASES inferred ¹⁴
45	DNMT3L	DNA Methyltransferase 3 Like	Protein Coding	6.76	DISEASES inferred ¹⁴
46	HBS1L	HBS1 Like Translational GTPase	Protein Coding	6.7	DISEASES inferred ¹⁴
47	EPPIN	Epididymal Peptidase Inhibitor	Protein Coding	6.61	DISEASES inferred ¹⁴ ¹⁴
48	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	6.6	DISEASES inferred ¹⁴
49	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	6.43	DISEASES inferred ¹⁴
50	AHSP	Alpha Hemoglobin Stabilizing Protein	Protein Coding	6.36	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Alpha-Thalassemia

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

Sources

Pathways for Alpha-Thalassemia

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

#	Super pathways	Score	Top Affiliating Genes
1	Glucose / Energy Metabolism ³	12.04	UGT1A1 HBG1 HBB G6PD
2	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.29	HBB HBA2 HBA1
3	O2/CO2 exchange in erythrocytes ⁶⁶ Show member pathways Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) ⁶⁶ Erythrocytes take up carbon dioxide and release oxygen ⁶⁶ Erythrocytes take up oxygen and release carbon dioxide ⁶⁶	10.36	HBB HBA2 HBA1
4	Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations ⁶⁶ Show member pathways Alternative Lengthening of Telomeres (ALT) ⁶⁶ Defective Inhibition of DNA Recombination at Telomere ⁶⁶ Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations ⁶⁶ Diseases of Telomere Maintenance ⁶⁶	9.96	DAXX ATRX

Sources

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