Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Ferrochelatase deficiency of the bone marrow was found in 2 sisters with a syndrome of congenital hypochromic anaemia, hyperferraemia and heavy iron deposits in the liver.
D000740:Anemia / Q000151:congenital / Q000201:enzymology* / Q000473:pathology; D001853:Bone Marrow / Q000201:enzymology* / Q000473:pathology; D004900:Erythroblasts / Q000201:enzymology; D005260:Female; D006801:Humans; D007501:Iron / Q000097:blood / Q000378:metabolism*; D008099:Liver / Q000378:metabolism*; D008190:Lyases / Q000172:deficiency*; D046351:Protoporphyria, Erythropoietic
D007501:Iron; D008190:Lyases