Anaemia due to enzyme disorders

Description

congenital nonspherocytic hemolytic anemia: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated.

Data source
FinnGen phenocode D3_ANAEMIAENZYME
Hospital Discharge registry ICD-10: D55, ICD-8: 282[2-3]
Cause of Death registry ICD-10: D55, ICD-8: 282[2-3]
Level in the ICD-hierarchy 3
First defined in version DF2
Ontology
DOID 2861
GWAS catalog 1000641
MESH D000746
SNOMED CT 301317008

Key figures

Sex All Female Male
Number of individuals 6 - -
Unadjusted prevalence (%) 0.0 - -
Mean age at first event (years) 42.39 - -
Case fatality at 5-years (%) 16.67 - -

Longitudinal metrics

Sex All Female Male
Median nb. of events per indiv. 1 - -
Recurrence at 6 months (%) 33.33 - -

Associations

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