GENETIC ENCYCLOPEDIA
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disease: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

id4261
nameThrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
descriptionGATA1-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 (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are life long; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. Heterozygous females may have mild to moderate symptoms such as menorrhagia.
variant-disease NM_002049.3(GATA1):c.646C>T (p.Arg216Trp) AND Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) AND Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) AND multiple conditions