loading...| Preferred Name |
Beta-thalassemia |
| ID |
http://www.orpha.net/ORDO/Orphanet_848 |
| definition |
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 |
| has_age_of_onset |
Childhood Infancy |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
OMIM:613985 OMIM:603902 MedDRA:10043391 UMLS:C0005283 ICD-11:3A50.2 ICD-10:D56.1 MeSH:D017086 |
| label |
Beta-thalassemia |
| notation |
ORPHA:848 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_95618 |
| prefixIRI |
ORDO:Orphanet_848 |
| prefLabel |
Beta-thalassemia |
| present_in |
Europe AND has_annual_incidence_average_value : 10.0 AND has_annual_incidence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_95618 |
| subClassOf |