hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Findings
No curated finding names hemolytic anemia due to erythrocyte adenosine deaminase overproduction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hemolytic 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.
Definition from the Mondo Disease Ontology (MONDO:0020458), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Erythroid hyperplasiaHPOHP:0012132
- 1 of 1 reported patient
- Hemolytic anemiaHPOHP:0001878
- 1 of 1 reported patient
- HyperbilirubinemiaHPOHP:0002904
- 1 of 1 reported patient
- Reduced erythrocyte adenosine triphosphate concentrationHPOHP:4000184
- 1 of 1 reported patient
- ReticulocytosisHPOHP:0001923
- 1 of 1 reported patient
- StomatocytosisHPOHP:0004446
- 1 of 1 reported patient
Where it sits
Other names
3 names
Resolves to: hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- Also called
- adenosine deaminase, elevated, hemolytic anaemia due toadenosine deaminase, elevated, hemolytic anemia due toanemia, congenital, nonspherocytic hemolytic, 9