ORPHA:715128
Hemoglobin E-beta-thalassemia major
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemoglobin E-beta-thalassemia major | |
| fr | Hémoglobine E-bêta-thalassémie majeure | |
| de | Hämoglobin E-Beta-Thalassämie major | |
| es | Hemoglobina E-beta-talasemia mayor | |
| it | Beta talassemia maggiore correlata allemoglobina E | |
| nl | Hemoglobine E - bètathalassemie major | |
| pt | Hemoglobin E-beta-thalassemia major | |
| pl | Hemoglobina E-β-talasemia ciężka | |
| cs | Hemoglobin E-beta-thalassemia major |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:231249Hemoglobin E-beta-thalassemia syndrome
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HBB | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 15481886[PMID] |
| HBB | Disease-causing somatic mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 21886666[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/715128
- This record as JSON: /data/d/715128.json