loading...| Preferred Name |
Sickle cell anemia |
| ID |
http://www.orpha.net/ORDO/Orphanet_232 |
| definition |
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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
MedDRA:10040641 ICD-11:3A51.2 ICD-10:D57.1 MeSH:D000755 ICD-11:3A51.1 UMLS:C0002895 ICD-10:D57.0 OMIM:603903 ICD-10:D57.2 |
| label |
Sickle cell anemia |
| notation |
ORPHA:232 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_93614 http://www.orpha.net/ORDO/Orphanet_399185 |
| prefixIRI |
ORDO:Orphanet_232 |
| prefLabel |
Sickle cell anemia |
| present_in |
Belgium AND has_birth_prevalence_average_value : 47.5 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 41.7 AND has_birth_prevalence_range : 1-5 / 10 000 Brazil AND has_annual_incidence_average_value : 21.6262 AND has_annual_incidence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 42.0 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000 Martinique AND has_birth_prevalence_average_value : 248.75 AND has_birth_prevalence_range : >1 / 1000 Guadeloupe AND has_birth_prevalence_average_value : 344.8 AND has_birth_prevalence_range : >1 / 1000 Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 32.8 AND has_birth_prevalence_range : 1-5 / 10 000 Reunion AND has_birth_prevalence_average_value : 20.15 AND has_birth_prevalence_range : 1-5 / 10 000 Guyana AND has_birth_prevalence_average_value : 467.3 AND has_birth_prevalence_range : >1 / 1000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_93614 http://www.orpha.net/ORDO/Orphanet_399185 |
| subClassOf |