/severe congenital hypochromic anemia with ringed sideroblasts

severe congenital hypochromic anemia with ringed sideroblasts

Rare Disease

MONDO:0014094

Also Known As

anemia, hypochromic microcytic, with iron overload type 2severe congenital hypochromic sideroblastic anaemiasevere congenital hypochromic sideroblastic anemiaAHMIO2anemia, hypochromic microcytic, with iron overload 2

Definition

STEAP3/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.