Autosomal dominant hereditary disorder
Beta thalassemia
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Dominant beta-thalassemia (disorder)
Dominant beta-thalassemia
Inclusion body beta-thalassemia
Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. Prevalence of this form is not known. Presents with moderate to severe anemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis.
dominante bètathalassemie
'inclusion body'-bètathalassemie
Id716682000
StatusPrimitive
Has interpretationBelow reference range
InterpretsMeasurement of total hemoglobin concentration
Finding siteErythrocyte
OccurrenceCongenital
ICD-10 complex map reference set
TargetD56.1
RuleTRUE
AdviceALWAYS D56.1
CorrelationSNOMED CT source code to target map code correlation not specified