Hemoglobin E-beta-thalassemia syndrome
Synonyms: E-beta-thalassemia · HbE-beta-thalassemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemoglobin E-beta-thalassemia syndrome | E-beta-thalassemia · HbE-beta-thalassemia syndrome |
| fr | Hémoglobine E-bêta-thalassémie | E-bêta-thalassémie · HbE-bêta-thalassémie · Thalassémie bêta-HbE · Thalassémie bêta-hémoglobine E |
| de | Hämoglobin E-Beta-Thalassämie-Syndrom | HbE-Beta-Thalassämie-Syndrom |
| es | Síndrome de hemoglobina E-beta-talasemia | E-beta-talasemia · Síndrome de HbE-beta-talasemia |
| it | Sindrome emoglobina E - beta talassemia | E-beta talassemia · Sindrome HbE-beta talassemia |
| nl | Hemoglobine E - bèta-thalassemie-syndroom | E-bèta-thalassemie · HbE - bèta-thalassemie-syndroom |
| pt | Síndrome hemoglobina E-talassemia beta | |
| pl | Zespół beta-talasemii z hemoglobiną E | E-beta-talasemia · HbE - beta-talasemia |
| cs | Syndrom hemoglobinu E s beta-talasémií | E-beta-talasémie · HbE/beta-talasémie |
| uk | Синдром гемоглобінової Е-бета-таласемії | Е-бета-таласемія · Синдром HbE-бета-таласемії |
| zh | 血红蛋白E-β-地中海贫血综合征 | 血红蛋白E-β-地中海贫血综合征 |
| tr | Hemoglobin E-beta-talasemi sendromu | E-beta-talasemi · HbE-beta-talasemi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D58.2 | NTBT | attributed | validated |
| ICD-11 | 3A50.2 | NTBT | index | validated |
| MONDO | 0016491 | E | validated | |
| UMLS | C0472777 | 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:231230Beta-thalassemia associated with another hemoglobin anomaly
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HBB | ORPHA:715125Hemoglobin E-beta-thalassemia intermedia | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 21886666[PMID] |
| HBB | ORPHA:715128Hemoglobin E-beta-thalassemia major | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 15481886[PMID] |
| HBB | ORPHA:715128Hemoglobin E-beta-thalassemia major | Disease-causing somatic mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 21886666[PMID] |
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.
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:0002721 | Immunodeficiency | |
| Frequent (79-30%) | ||
| HP:0003281 | Increased circulating ferritin concentration | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231249
- This record as JSON: /data/d/231249.json