ORPHA:231237
Delta-beta-thalassemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Delta-beta-thalassemia | |
| fr | Delta-bêta-thalassémie | Thalassémie delta-bêta |
| de | Delta-beta-Thalassämie | |
| es | Delta-beta-talasemia | |
| it | Delta-beta talassemia | |
| nl | Delta-bèta-thalassemie | |
| pt | Talassemia delta-beta | |
| pl | Delta-beta talasemia | |
| cs | Delta-beta-talasémie | |
| uk | Дельта-бета-таласемія | |
| zh | δ-β-地中海贫血 | |
| tr | Delta-beta-talasemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 141749 | NTBT | validated | |
| ICD-10 | D56.2 | E | specific | validated |
| ICD-11 | 3A50.3 | NTBT | attributed | validated |
| MONDO | 0016489 | E | validated | |
| MeSH | C562716 | E | validated | |
| UMLS | C0271985 | E | validated | |
| MedDRA | 10012236 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:275749Beta-thalassemia and related disorders
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
4
Genes
3 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 | 18932066[PMID] |
| HBD | Disease-causing germline mutation(s) in | Assessed | HGNC:4829 | ENSG00000223609 | 142000 | 11p15.4 | hemoglobin subunit delta | 1301204[PMID] |
| HBG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4831 | ENSG00000213934 | 142200 | 11p15.4 | hemoglobin subunit gamma 1 | 18932066[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011902 | Abnormal hemoglobin | |
| HP:0001903 | Anemia | |
| HP:0001935 | Microcytic anemia | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231237
- This record as JSON: /data/d/231237.json