ORPHA:715140
Hemoglobin Lepore-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 Lepore-beta-thalassemia major | |
| fr | Hémoglobine Lepore-bêta-thalassémie majeure | |
| de | Hämoglobin Lepore-beta-Thalassämie major | |
| es | Hemoglobina Lepore-beta-talasemia mayor | |
| it | Beta talassemia maggiore correlata allemoglobina Lepore | |
| nl | Lepore-hemoglobine - bètathalassemie major | |
| pt | Hemoglobin Lepore-beta-thalassemia major | |
| pl | Hemoglobina Lepore-β-talasemia główny | |
| cs | Hemoglobin Lepore-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:330032Hemoglobin Lepore-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 | Part of a fusion gene in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 18932069[PMID] |
| HBD | Part of a fusion gene in | Assessed | HGNC:4829 | ENSG00000223609 | 142000 | 11p15.4 | hemoglobin subunit delta | 18932069[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/715140
- This record as JSON: /data/d/715140.json