Definition

A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23.

Synonyms

beta-thalassemia-X-linked thrombocytopenia syndrome
GATA1-related X-linked cytopenia

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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X-linked thrombocytopenia with beta-thalassemia

X-linked thrombocytopenia with beta-thalassemia

Associated Genes

Associated Alleles

Associated Models