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Dominant beta-thalassemia

Disease definition

Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.

ORPHA:231226

Classification level: Subtype of disorder
  • Synonym(s):
    • Inclusion body beta-thalassemia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: D56.1
  • ICD-11: 3A50.2
  • OMIM: 603902
  • UMLS: C1858990
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Prevalence of this form is not known.

Clinical description

Patients present with moderate to severe anemia, jaundice and splenomegaly.

Etiology

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.

Diagnostic methods

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.

Expert reviewer(s):  Pr Renzo GALANELLO - Dr Raffaella ORIGA - Last update: May 2011

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011)

Detailed information

General public

Guidelines

Disease review articles

Disability

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.