Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria
| Autor: | J. C. Koningsberger, J. J. M. Marx, C. W. J. Sorber, H. Baart de la Faille, J. van Hattum, L. H. P. M. Rademakers |
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| Rok vydání: | 1993 |
| Předmět: |
Adult
Male medicine.medical_specialty Erythroblasts Iron Clinical Biochemistry Mitochondrion Biochemistry Sideroblastic anemia Erythroblast Bone Marrow Internal medicine medicine Humans biology Porphyria Hepatoerythropoietic General Medicine Iron deficiency Ferrochelatase Middle Aged medicine.disease Microscopy Electron medicine.anatomical_structure Endocrinology Porphyria Immunology biology.protein Female Bone marrow Erythropoietic protoporphyria |
| Zdroj: | European journal of clinical investigation. 23(2) |
| ISSN: | 0014-2972 |
| Popis: | We have studied the iron metabolism in nine patients with erythropoietic protoporphyria (EPP) and three patients with sideroblastic anaemia (SA). All, except one EPP patient were iron deficient. The SA patients had a secondary haemochromatosis. The bone marrow aspirates of patients with SA and also three patients with EPP had a high incidence of ring sideroblasts. Ultrastructural examination of the bone marrow consistently showed finely dispersed electron-dense deposits localized in mitochondria of erythroblasts in all patients with EPP and SA. Mitochondrial electron energy-loss spectroscopy (EELS) indicated identical iron compounds in erythroblasts of all EPP and SA patients. These findings indicate that the mitochondrial iron utilization is disturbed in EPP and SA. The observation of mitochondrial iron deposition in erythroblasts in EPP and SA suggests that this failure is not of pathognomonic value for diagnosis of SA, but is apparently the result of an inefficient haem synthesis, in EPP due to a defective ferrochelatase. The mitochondrial iron deposition does not depend on the iron status (iron overload or iron deficiency) of the EPP patient. |
| Databáze: | OpenAIRE |
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