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Beta-thalassemia with other manifestations
Disease definition
Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.
ORPHA:231386
Classification level: Group of disorders- Synonym(s): -
- Prevalence: -
- Inheritance: -
- Age of onset: -
- ICD-10: D58.2
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Etiology
These forms of beta-thalassemia are not related to defects in the beta-globin gene cluster but to mutations either in the gene encoding the transcription factor TFIIH (beta-thalassemia - trichothiodystrophy) or in the X-linked transcription factor GATA-1 (beta-thalassemia - X-linked thrombocytopenia; see these terms).
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