severe congenital hypochromic anemia with ringed sideroblasts
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.
MONDO:0000104
anemia, hypochromic microcytic with iron overload
is_a
MONDO:0000577
congenital anemia
is_a
MONDO:0016624
hereditary anemia
is_a
MONDO:0020099
inherited sideroblastic anemia
is_a
AHMIO2
related
anemia, hypochromic microcytic, with iron overload 2
related
anemia, hypochromic microcytic, with iron overload type 2
exact
severe congenital hypochromic sideroblastic anaemia
exact
severe congenital hypochromic sideroblastic anemia
exact