Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital hypochromic anemia with ringed sideroblasts
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.
Also known as anemia, hypochromic microcytic, with iron overload type 2, severe congenital hypochromic sideroblastic anaemia, severe congenital hypochromic sideroblastic anemia — per MONDO