Hemoglobin E-Beta-Thalassemia Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hemoglobin E-Beta-Thalassemia Syndrome

MalaCards integrated aliases for Hemoglobin E-Beta-Thalassemia Syndrome:

Name: Hemoglobin E-Beta-Thalassemia Syndrome ⁵⁹

Hemoglobin E/beta Thalassemia Disease ²⁹ ⁶ ⁷³

Hbe-Beta-Thalassemia Syndrome ⁵⁹

E-Beta-Thalassemia ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

hemoglobin e-beta-thalassemia syndrome
Inheritance: Autosomal recessive;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

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

Haemolytic anaemias

Other hereditary haemolytic anaemias

Other haemoglobinopathies

Orphanet: ⁵⁹

Rare haematological diseases

External Ids:

Orphanet ⁵⁹ ORPHA231249

UMLS via Orphanet ⁷⁴ C0472777

ICD10 via Orphanet ³⁴ D58.2

SNOMED-CT via HPO ⁶⁹ 165397008 271737000 234532001

UMLS ⁷³ C0472777

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Summaries for Hemoglobin E-Beta-Thalassemia Syndrome

MalaCards based summary : Hemoglobin E-Beta-Thalassemia Syndrome, also known as hemoglobin e/beta thalassemia disease, is related to beta-thalassemia and thalassemia. An important gene associated with Hemoglobin E-Beta-Thalassemia Syndrome is HBB (Hemoglobin Subunit Beta). Related phenotypes are anemia and immunodeficiency

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Related Diseases for Hemoglobin E-Beta-Thalassemia Syndrome

Diseases in the Hemoglobin E-Beta-Thalassemia Syndrome family:

Hemoglobin C-Beta-Thalassemia Syndrome

Diseases related to Hemoglobin E-Beta-Thalassemia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score
1	beta-thalassemia	10.7
2	thalassemia	10.7
3	priapism	9.9
4	endotheliitis	9.9
5	pulmonary hypertension, primary, 1	9.9
6	wilson disease	9.9
7	osteonecrosis	9.9
8	lymphoma	9.9
9	splenic sequestration	9.9
10	hemosiderosis	9.9
11	paraplegia	9.9
12	mediastinitis	9.9

Graphical network of the top 20 diseases related to Hemoglobin E-Beta-Thalassemia Syndrome:

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Symptoms & Phenotypes for Hemoglobin E-Beta-Thalassemia Syndrome

Human phenotypes related to Hemoglobin E-Beta-Thalassemia Syndrome:

⁵⁹ ³²

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	anemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001903
2	immunodeficiency ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002721
3	increased serum ferritin ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003281
4	abnormal hemoglobin ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011902

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Drugs & Therapeutics for Hemoglobin E-Beta-Thalassemia Syndrome

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Phase 1/2 Study of HQK-1001 in Patients With Beta Thalassemia	Completed	NCT00790127	Phase 1, Phase 2	HQK-1001;Placebo

Search NIH Clinical Center for Hemoglobin E-Beta-Thalassemia Syndrome

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Genetic Tests for Hemoglobin E-Beta-Thalassemia Syndrome

Genetic tests related to Hemoglobin E-Beta-Thalassemia Syndrome:

#	Genetic test	Affiliating Genes
1	Hemoglobin E/beta Thalassemia Disease ²⁹

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Anatomical Context for Hemoglobin E-Beta-Thalassemia Syndrome

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Publications for Hemoglobin E-Beta-Thalassemia Syndrome

Articles related to Hemoglobin E-Beta-Thalassemia Syndrome:

#	Title	Authors	Year
1	Hemostatic and thrombotic markers in patients with hemoglobin E/beta-thalassemia disease. ( 17654509 )	Angchaisuksiri P....Rattanasiri S.	2007
2	Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. ( 724294 )	Ruymann F.B....Brouillard R.B.	1978

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Genes for Hemoglobin E-Beta-Thalassemia Syndrome

Genes related to Hemoglobin E-Beta-Thalassemia Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HBB	Hemoglobin Subunit Beta	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁹

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Variations for Hemoglobin E-Beta-Thalassemia Syndrome

ClinVar genetic disease variations for Hemoglobin E-Beta-Thalassemia Syndrome:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HBB	NM_000518.4(HBB): c.79G> A (p.Glu27Lys)	single nucleotide variant	Pathogenic	rs33950507	GRCh37	Chromosome 11, 5248173: 5248173
2	HBB	NM_000518.4(HBB): c.79G> A (p.Glu27Lys)	single nucleotide variant	Pathogenic	rs33950507	GRCh38	Chromosome 11, 5226943: 5226943

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Expression for Hemoglobin E-Beta-Thalassemia Syndrome

Search GEO for disease gene expression data for Hemoglobin E-Beta-Thalassemia Syndrome.

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Pathways for Hemoglobin E-Beta-Thalassemia Syndrome

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GO Terms for Hemoglobin E-Beta-Thalassemia Syndrome

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