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Severe congenital hypochromic anemia with ringed sideroblasts
rareSTEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.
- Identifiers
- MONDO:0014094 OMIM:615234Orphanet:300298
- Causal genes
- STEAP3
- Part of
- Anemia, hypochromic microcytic with iron overloadCongenital anemiaHereditary anemiaInherited sideroblastic anemia
- Also known as
- AHMIO2 · anemia, hypochromic microcytic, with iron overload 2 · anemia, hypochromic microcytic, with iron overload type 2 · severe congenital hypochromic sideroblastic anaemia · severe congenital hypochromic sideroblastic anemia
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