ORPHA:848
Beta-thalassemia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-thalassemia | |
| fr | Bêta-thalassémie | Thalassémie bêta |
| de | Beta-Thalassämie | |
| es | Beta-talasemia | |
| it | Beta talassemia | |
| nl | Bèta-thalassemie | |
| pt | Beta-talassemia | Anemia de Cooley |
| pl | Talasemia beta | |
| cs | Beta-talasemie | |
| uk | Бета-таласемія | |
| zh | β-地中海贫血 | |
| tr | Beta-talasemi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603902 | BTNT | validated | |
| OMIM | 613985 | BTNT | validated | |
| ICD-10 | D56.1 | E | specific | validated |
| ICD-11 | 3A50.2 | E | specific | validated |
| MONDO | 0019402 | E | validated | |
| MONDO | 19402 | E | validated | |
| MeSH | D017086 | E | validated | |
| UMLS | C0005283 | E | validated | |
| GARD | 871 | E | validated | |
| MedDRA | 10043391 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:275749Beta-thalassemia and related disorders
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:93614Hematological disorder with renal involvement
rare genetic diseases; rare renal diseases - ORPHA:95618Pituitary hormone deficiency secondary to storage disease
rare endocrine diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | France | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
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HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011902 | Abnormal hemoglobin | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001903 | Anemia | |
| HP:0001935 | Microcytic anemia | |
| HP:0000980 | Pallor | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0011031 | Abnormality of iron homeostasis | |
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0002240 | Hepatomegaly | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000737 | Irritability | |
| HP:0001324 | Muscle weakness | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002093 | Respiratory insufficiency | |
| Occasional (29-5%) | ||
| HP:0001081 | Cholelithiasis | |
| HP:0012115 | Hepatitis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0200042 | Skin ulcer | |
| HP:0001873 | Thrombocytopenia | |
| HP:0004936 | Venous thrombosis | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/848
- This record as JSON: /data/d/848.json