Ferrochelatase Deficiency in the Bone Marrow in a Syndrome of Congenital Hypochromic Microcytic Anemia, Hyperferremia, and Iron Overload of the Liver

P. Stavem Section of Hematology, Medical Dept. A, Section of Electron Microscopy, Dept. of Pathology, Section of Nuclear Medicine, Dept. of Clinical Chemistry, and Surgical Dept. B, Rikshospitalet, The National Hospital, Oslo, and Dept. of Clinical Chemistry, University Hospital, Trondheim, Norway

I. Romslo Section of Hematology, Medical Dept. A, Section of Electron Microscopy, Dept. of Pathology, Section of Nuclear Medicine, Dept. of Clinical Chemistry, and Surgical Dept. B, Rikshospitalet, The National Hospital, Oslo, and Dept. of Clinical Chemistry, University Hospital, Trondheim, Norway

T. Hovig Section of Hematology, Medical Dept. A, Section of Electron Microscopy, Dept. of Pathology, Section of Nuclear Medicine, Dept. of Clinical Chemistry, and Surgical Dept. B, Rikshospitalet, The National Hospital, Oslo, and Dept. of Clinical Chemistry, University Hospital, Trondheim, Norway

K. Rootwelt Section of Hematology, Medical Dept. A, Section of Electron Microscopy, Dept. of Pathology, Section of Nuclear Medicine, Dept. of Clinical Chemistry, and Surgical Dept. B, Rikshospitalet, The National Hospital, Oslo, and Dept. of Clinical Chemistry, University Hospital, Trondheim, Norway

R. Emblem Section of Hematology, Medical Dept. A, Section of Electron Microscopy, Dept. of Pathology, Section of Nuclear Medicine, Dept. of Clinical Chemistry, and Surgical Dept. B, Rikshospitalet, The National Hospital, Oslo, and Dept. of Clinical Chemistry, University Hospital, Trondheim, Norway

Abstract

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.

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Ferrochelatase Deficiency in the Bone Marrow in a Syndrome of Congenital Hypochromic Microcytic Anemia, Hyperferremia, and Iron Overload of the Liver

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Ferrochelatase Deficiency in the Bone Marrow in a Syndrome of Congenital Hypochromic Microcytic Anemia, Hyperferremia, and Iron Overload of the Liver

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