ORPHA:232
Sickle cell anemia
Synonyms: Homozygous hemoglobin S · Homozygous sickle cell anemia SS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sickle cell anemia | Homozygous hemoglobin S · Homozygous sickle cell anemia SS |
| fr | Drépanocytose | Anémie à hématies falciformes · Drépanocytose homozygote SS |
| de | Sichelzellkrankheit | Homozygote HbS-Erkrankung · Homozygote Sichelzellenanämie SS · Sichelzellanämie |
| es | Anemia falciforme | Anemia de células falciformes · Anemia de células falciformes SS homocigota · Anemia drepanocítica · Anemia falciforme SS homocigota · Drepanocitosis · Hemoglobina S homocigótica |
| it | Anemia a cellule falciformi | |
| nl | Sikkelcelanemie | Homozygote hemoglobine S · Homozygote sikkelcelanemie SS · Sikkelcelziekte |
| pt | Anemia de células falciformes | Anemia falciforme homozigótica SS · Hemoglobina homozigótica S |
| pl | Niedokrwistość sierpowata | Anemia sierpowata |
| cs | Srpkovitá anémie | Srpkovitá nemoc |
| uk | Серповидно-клітинна анемія | |
| zh | 镰状细胞性贫血 | 镰状细胞病 |
| tr | Orak hücreli anemi | Orak hücre hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603903 | E | validated | |
| ICD-10 | D57.0 | BTNT | specific | validated |
| ICD-10 | D57.1 | BTNT | specific | validated |
| ICD-10 | D57.2 | BTNT | specific | validated |
| ICD-11 | 3A51.1 | BTNT | specific | validated |
| ICD-11 | 3A51.2 | BTNT | specific | validated |
| MONDO | 0011382 | E | validated | |
| MeSH | D000755 | E | validated | |
| UMLS | C0002895 | E | validated | |
| GARD | 8614 | E | validated | |
| MedDRA | 10040641 | 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 (4):
- ORPHA:93614Hematological disorder with renal involvement
rare genetic diseases; rare renal diseases - ORPHA:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:399185Rare hereditary disease with avascular necrosis
rare genetic diseases; rare systemic and rheumatological diseases; rare bone diseases - ORPHA:275752Sickle cell disease
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 | 20301551[PMID]_24361300[PMID] |
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Prevalence and incidence
12 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 42 / 100 000 | France | Value and class | Validated | OTHERitut de Veille Sanitaire 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25 / 100 000 | Germany | Value and class | Validated | 24398797[PMID] |
| Point prevalence | 1-5 / 10 000 | 30 / 100 000 | United States | Value and class | Validated | 20331952[PMID]_Center for Diseases Control and Prevention[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 47.5 / 100 000 | Belgium | Value and class | Validated | 10321364[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 41.7 / 100 000 | United Kingdom | Value and class | Not yet validated | Sickle Cell Society 2008[OTHER] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2019[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 32.8 / 100 000 | United States | Value and class | Validated | 17183567[PMID] |
| Prevalence at birth | >1 / 1000 | 344.8 / 100 000 | Guadeloupe | Value and class | Not yet validated | OTHERitut de Veille Sanitaire 2015[OTHER] |
| Prevalence at birth | >1 / 1000 | 248.75 / 100 000 | Martinique | Value and class | Not yet validated | OTHERitut de Veille Sanitaire 2015[OTHER] |
| Prevalence at birth | >1 / 1000 | 467.3 / 100 000 | Guyana | Value and class | Not yet validated | OTHERitut de Veille Sanitaire 2015[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 20.15 / 100 000 | Reunion | Value and class | Not yet validated | OTHERitut de Veille Sanitaire 2015[OTHER] |
| Annual incidence | 1-5 / 10 000 | 21.6262 / 100 000 | Brazil | Value and class | Validated | 35209917[PMID] |
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
37 annotations · validated 2024-02-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0004870 | Chronic hemolytic anemia | |
| Very frequent (99-80%) | ||
| HP:0001878 | Hemolytic anemia | |
| HP:0012531 | Pain | |
| HP:0002719 | Recurrent infections | |
| Frequent (79-30%) | ||
| HP:0001743 | Abnormality of the spleen | |
| HP:0010885 | Avascular necrosis | |
| HP:0100749 | Chest pain | |
| HP:0012622 | Chronic kidney disease | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0000952 | Jaundice | |
| HP:0002754 | Osteomyelitis | |
| HP:0000939 | Osteoporosis | |
| HP:0011981 | Pigment gallstones | |
| HP:0001923 | Reticulocytosis | |
| HP:0000488 | Retinopathy | |
| HP:0001894 | Thrombocytosis | |
| Occasional (29-5%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002597 | Abnormality of the vasculature | |
| HP:0001081 | Cholelithiasis | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0031090 | Finger dactylitis | |
| HP:0011886 | Hyphema | |
| HP:0012418 | Hypoxemia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001406 | Intrahepatic cholestasis | |
| HP:0002140 | Ischemic stroke | |
| HP:0011904 | Persistence of hemoglobin F | |
| HP:0200023 | Priapism | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0025326 | Retinal arterial occlusion | |
| HP:0200042 | Skin ulcer | |
| HP:0034336 | Splenic infarction | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
| Very rare (<4-1%) | ||
| HP:0001931 | Hypochromic anemia | |
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0001935 | Microcytic anemia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 29489205[PMID]_1624972[PMID]_3940552[PMID] _7296040[PMID]_20301551[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/232
- This record as JSON: /data/d/232.json