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GTR Home > Conditions/Phenotypes > Hemolytic anemia due to erythrocyte adenosine deaminase overproduction

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction

Synonyms
Adenosine deaminase, elevated, hemolytic anemia due to; ERYTHROCYTE ADA, ELEVATED, HEMOLYTIC ANEMIA DUE TO
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Hemolytic anemia due to elevated adenosine deaminase (HAEADA) is an X-linked hematologic disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased activity of ADA (608958) specifically in erythrocyte precursors. ATP levels may be secondarily decreased. Additional features may include low birth weight, thrombocytopenia, hypospadias, and splenomegaly. Males are preferentially affected, although carrier females may show elevated erythrocyte ADA or mild features (Ludwig et al., 2022). [from OMIM]

Available tests

5 tests are in the database for this condition.

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Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ERYF1, GATA-1, GF-1, GF1, HAEADA, NF-E1, NFE1, XLANP, XLTDA, XLTT, GATA1
    Summary: GATA binding protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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