Severe congenital hypochromic anemia with ringed sideroblasts

MONDO:0014094

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.

Also known as: anemia, hypochromic microcytic, with iron overload type 2, severe congenital hypochromic sideroblastic anaemia, severe congenital hypochromic sideroblastic anemia, AHMIO2, anemia, hypochromic microcytic, with iron overload 2

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