Search for a rare disease
Other search option(s)
Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.
ORPHA:231226Classification level: Subtype of disorder
- Inclusion body beta-thalassemia
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: Childhood
- ICD-10: D56.1
- OMIM: 603902
- UMLS: C1858990
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence of this form is not known.
Patients present 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.
The presence of hyper-unstable hemoglobin should be suspected in any individual with beta-thalassemia intermedia (see this term) when both parents are hematologically normal (de novo mutations), or in families with a pattern of autosomal dominant transmission of beta-thalassemia intermedia. Diagnosis is based on beta-globin gene sequencing.
Article for general public