GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from
mild to severe. One or more of the following may also be present: platelet dysfunction, mild β-
thalassemia, neutropenia, and congenital erythropoietic porphyria (CEP) in males.
Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising
and mucosal bleeding (eg, epistaxis). Anemia ranges from minimal (mild dyserythropoiesis)
to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical …

Disease characteristics. GATA1-related cytopenia is characterized by thrombocytopenia
and/or anemia ranging from mild to severe and one or more of the following: platelet
dysfunction, mild β-thalassemia, neutropenia, and congenital erythropoietic porphyria (CEP)
in males. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy
bruising and mucosal bleeding, such as epistaxis. Anemia ranges from minimal (mild
dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme …