Sickle cell-beta-thalassemia disease
Synonyms: HbS-beta-thalassemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sickle cell-beta-thalassemia disease | HbS-beta-thalassemia syndrome |
| fr | Drépanocytose-bêta-thalassémie | HbS-bêta-thalassémie · Thalassodrépanocytose |
| de | Sichelzell-beta-Thalassämie | HbS-beta-Thalassämie-Syndrom · Sichelzellkrankheit HbSbeta-Thalassämie |
| es | Enfermedad de células falciformes-beta-talasemia | Síndrome de HbS-beta-talasemia |
| it | Falcemia-beta talassemia | Sindrome da HbS-beta-talassemia |
| nl | Sikkelcel - bèta-thalassemie-ziekte | HbS - bèta-thalassemie-syndroom |
| pt | Síndrome de células falciformes-beta-talassemia | Síndrome HbS-beta-talassemia |
| pl | Niedokrwistość sierpowata - beta-talasemia | HbS - beta-talasemia |
| cs | Syndrom srpkovité anémie a beta talasemie | Syndrom HbS-beta talasemie |
| uk | Синдром серповидноклітинної бета-таласемії | Синдром HbS-бета-таласемії |
| zh | 镰状细胞β地中海贫血综合征 | HbS-β地中海贫血综合征 |
| tr | Orak hücre-beta-talasemi hastalığı sendromu | HbS-beta-talasemi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D57.2 | NTBT | inclusion | validated |
| ICD-11 | 3A51.3 | NTBT | attributed | validated |
| ICD-11 | 3A51.4 | NTBT | attributed | validated |
| MONDO | 0016668 | E | validated | |
| UMLS | C0221019 | E | validated | |
| GARD | 10333 | E | validated | |
| MedDRA | 10040655 | 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:275752Sickle cell disease
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
Genes
0 direct · 2 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:695140Sickle cell-beta zero-thalassemia | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 21250876[PMID] |
| HBB | ORPHA:695147Sickle cell-beta plus-thalassemia | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 34567471[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251359
- This record as JSON: /data/d/251359.json