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Beta-thalassemia-X-linked thrombocytopenia syndrome

Disease definition

Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.

ORPHA:231393

Classification level: Disorder
  • Synonym(s):
    • XLTT
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: -
  • ICD-10: D69.4
  • ICD-11: 3A50.2
  • OMIM: 314050
  • UMLS: C1839161
  • MeSH: C564050
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Prevalence of this form is not known.

Etiology

The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes.

Genetic counseling

Transmission is X-linked.

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) Japanese (2019, pdf)

Detailed information

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.