C134941Level 5
X-Linked Thrombocytopenia with Beta-Thalassemia
**Semantic type:** Disease or Syndrome
**Definition:** An X-linked recessive condition caused by mutation(s) in the GATA1 gene encoding erythroid transcription factor. It is characterized by thrombocytopenia, hemolytic anemia, and impairment of hemoglobin chain synthesis.
**Synonyms:** - XLTT
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