Sickle cell S-E disease
Synonyms: HbSE disease · Hemoglobin S-E disease · Sickle cell-hemoglobin E disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sickle cell S-E disease | HbSE disease · Hemoglobin S-E disease · Sickle cell-hemoglobin E disease |
| fr | Drépanocytose SE | Drépanocytose-hémoglobine SE · HbSE |
| de | Sichelzellkrankheit HbSE | HbSE-Krankheit · Hämoglobin S-E-Kankheit · SCD-S/E-Krankheit · Sichelzell-Hämoglobin-E-Krankheit |
| es | Anemia falciforme S-E | Anemia de células falciformes S-E · Anemia de células falciformes-hemoglobina E · Anemia falciforme-hemoglobina E · Enfermedad HbSE · Enfermedad de la hemoglobina S-E |
| it | Associazione falcemia e emoglobinopatia E | |
| nl | Sikkelcelziekte S-E | HbSE-ziekte · Hemoglobine S-E-ziekte · Sikkelcel-hemoglobine E-ziekte |
| pt | Anemia falciforme S-E | Doença hemoglobina S-E · Anemia falciforme hemoglobina E · Doença HbSE |
| pl | Niedokrwistość sierpowata - choroba hemoglobiny E disease | Choroba HbSE |
| cs | Syndrom srpkovité anémie a onemocnění hemoglobinu E | HbSE onemocnění |
| uk | Синдром серповидноклітинної анемії з гемоглобіном Е | Хвороба HbSE |
| zh | 镰状细胞血红蛋白E病综合征 | HbSE病 |
| tr | Orak hücre-hemoglobin E hastalığı sendromu | HbSE hastalığı |
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 | index | validated |
| MONDO | 0016671 | E | validated | |
| UMLS | C1112747 | 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:700085Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
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 | 20301551[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/251375
- This record as JSON: /data/d/251375.json