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Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
rareHemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.
- Identifiers
- MONDO:0020458 OMIM:102730OMIM:301083Orphanet:99138
- Causal genes
- GATA1
- Part of
- Anemia due to enzyme disorderCongenital nonspherocytic hemolytic anemiaInborn disorder of purine metabolism
- Also known as
- adenosine deaminase, elevated, hemolytic anaemia due to · adenosine deaminase, elevated, hemolytic anemia due to · anemia, congenital, nonspherocytic hemolytic, 9
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