Beta-thalassemia associated with another hemoglobin anomaly
Synonyms: Beta-thalassemia associated with another Hb anomaly
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia].
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-thalassemia associated with another hemoglobin anomaly | Beta-thalassemia associated with another Hb anomaly |
| fr | Bêta-thalassémie associée à une autre anomalie de l'hémoglobine | Bêta-thalassémie associée à une autre anomalie de l'Hb · Thalassémie bêta associée à une autre anomalie de l'Hb · Thalassémie bêta associée à une autre anomalie de l'hémoglobine |
| de | Beta-Thalassämie mit assoziierter sonstiger Hämoglobin-Anomalie | Beta-Thalassämie mit assoziierter sonstiger Hb-Anomalie |
| es | Beta-talasemia asociada a otra anomalía de la hemoglobina | Beta-talasemia asociada a otra anomalía de la Hb |
| it | Beta talassemia associata ad altro difetto dell'emoglobina | Beta talassemia associata ad altra anomalia dell'emoglobina · Beta talassemia associata ad altro difetto dell'Hb |
| nl | Bèta-thalassemie geassocieerd met een andere hemoglobineanomalie | Bèta-thalassemie geassocieerd met een andere Hb-anomalie |
| pt | Talassemia beta associada a anomalia da hemoglobina | |
| pl | Beta-talasemia z towarzyszącą inną anomalią hemoglobiny | Beta-talasemia z towarzyszącą inną anomalią Hb |
| cs | Beta-talasémie asociovaná s jinými anomáliemi hemoglobinu | Beta-talasémie asociovaná s jinými Hb anomáliemi |
| uk | Бета-таласемія, повязана з іншою аномалією гемоглобіну | Бета-таласемія, повязана з іншою аномалією Hb |
| zh | 与另一种血红蛋白异常相关的β-地中海贫血 | 与另一种血红蛋白异常相关的β-地中海贫血 |
| tr | Başka bir hemoglobin anomalisi -ilişkili beta-talasemi | Başka bir Hb anomalisi ile ilişkili beta-talasemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16488 | E | validated | |
| UMLS | C5679839 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231230
- This record as JSON: /data/d/231230.json