ORPHA:231242
Hemoglobin C-beta-thalassemia syndrome
Synonyms: C-beta-thalassemia · HbC-beta-thalassemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemoglobin C-beta-thalassemia syndrome | C-beta-thalassemia · HbC-beta-thalassemia syndrome |
| fr | Hémoglobine C-bêta-thalassémie | Thalassémie bêta-hémoglobine C · C-bêta-thalassémie · HbC-bêta-thalassémie · Thalassémie bêta-HbC |
| de | Hämoglobin C-beta-Thalassämie-Syndrom | C-Beta-Thalassämie · HbC - Beta-Thalassämie |
| es | Síndrome de hemoglobina C-beta-talasemia | C-beta-talasemia · HbC-beta-talasemia |
| it | Emoglobina C - beta talassemia | C- beta talassemia · HbC - beta talassemia |
| nl | Hemoglobine C - bèta-thalassemie-syndroom | C - bèta-thalassemie · HbC - bèta-thalassemie-syndroom |
| pt | Síndrome hemoglobina C-talassemia beta | |
| pl | Hemoglobina C - beta-talasemia | C- beta-talasemia · HbC - beta-talasemia |
| cs | Syndrom hemoglobinu C s beta-talasémií | C-beta-talasémie · HbC/beta-talasémie |
| uk | Синдром гемоглобінової С-бета-таласемії | С-бета-таласемія · Синдром HbC-бета-таласемії |
| zh | 血红蛋白C-β-地中海贫血综合征 | 血红蛋白C-β-地中海贫血综合征 |
| tr | Hemoglobin C-beta-talasemi sendromu | C-beta-talasemi · HbC-beta-talasemi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D58.2 | NTBT | attributed | validated |
| ICD-11 | 3A50.Y | NTBT | index | validated |
| MONDO | 0016490 | E | validated | |
| UMLS | C0221020 | 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 (1):
- ORPHA:231230Beta-thalassemia associated with another hemoglobin anomaly
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
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Genes
1 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 | 21886666[PMID] |
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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.
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HPO phenotypes
4 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 | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231242
- This record as JSON: /data/d/231242.json