Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria
L Rademakers, JC Koningsberger… - European journal of …, 1993 - Wiley Online Library
L Rademakers, JC Koningsberger, CWJ Sorber, HBDELA FAILLE, JVAN Hattum, JJM Marx
European journal of clinical investigation, 1993•Wiley Online LibraryWe 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 …
(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 …
Abstract
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. Mito‐chondrial 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 feature 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.
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