Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver.
Two sisters had congenital hypochromic microcytic anemia with hyperferremia, heavy iron deposits in the liver, and reduced bone marrow iron. Liver ferrochelatase activity was within normal limits, but in the bone marrow ferrochelatase activity was only 20% of that in healthy controls. There were no findings suggestive of lead intoxication, sideroblastic anemia, or erythropoietic protoporphyria.
D000328:Adult; D000747:Anemia, Hypochromic / Q000201:enzymology* / Q000235:genetics; D001853:Bone Marrow / Q000201:enzymology* / Q000378:metabolism; D004912:Erythrocytes / Q000473:pathology; D004920:Erythropoiesis; D005260:Female; D006801:Humans; D007501:Iron / Q000097:blood*; D008099:Liver / Q000378:metabolism*; D008190:Lyases / Q000172:deficiency*; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000201:enzymology; D046351:Protoporphyria, Erythropoietic; D013577:Syndrome
D007501:Iron; D008190:Lyases