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Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia.
- Source :
-
Blood [Blood] 2003 Mar 01; Vol. 101 (5), pp. 1996-2000. Date of Electronic Publication: 2002 Oct 24. - Publication Year :
- 2003
-
Abstract
- The sideroblastic anemias are characterized by ring sideroblasts, that is, red cell precursors with mitochondrial iron accumulation. We therefore studied the expression of mitochondrial ferritin (MtF) in these conditions. Erythroid cells from 13 patients with refractory anemia with ring sideroblasts (RARS) and 3 patients with X-linked sideroblastic anemia (XLSA) were analyzed for the distribution of cytoplasmic H ferritin (HF) and MtF using immunocytochemical methods. We also studied 11 healthy controls, 5 patients with refractory anemia without ring sideroblasts (RA), and 7 patients with RA with excess of blasts (RAEB). About one fourth of normal immature red cells, mostly proerythroblasts and basophilic erythroblasts, showed diffuse cytoplasmic positivity for HF, but very few were positive for MtF (0%-10%). Similar patterns were found in anemic patients without ring sideroblasts. In contrast, many erythroblasts from patients with sideroblastic anemia (82%-90% in XLSA and 36%-84% in RARS) were positive for MtF, which regularly appeared as granules ringing the nucleus. Double immunocytochemical staining confirmed the different cellular distribution of HF and MtF. There was a highly significant relationship between the percentage of MtF(+) erythroblasts and that of ring sideroblasts (Spearman R = 0.90; P <.0001). Reverse transcription-polymerase chain reaction studies demonstrated the presence of MtF mRNA in circulating reticulocytes of 2 patients with XLSA but not in controls. These findings suggest that most of the iron deposited in perinuclear mitochondria of ring sideroblasts is present in the form of MtF and that this latter might be a specific marker of sideroblastic anemia.
- Subjects :
- 5-Aminolevulinate Synthetase deficiency
5-Aminolevulinate Synthetase genetics
Anemia, Refractory blood
Anemia, Refractory, with Excess of Blasts blood
Anemia, Sideroblastic genetics
Ceruloplasmin genetics
Chromosomes, Human, Pair 5 genetics
Cytoplasm chemistry
Erythroblasts ultrastructure
Humans
Mitochondrial Proteins genetics
Myelodysplastic Syndromes blood
RNA, Messenger biosynthesis
Reticulocytes ultrastructure
Anemia, Sideroblastic blood
Ceruloplasmin metabolism
Erythroblasts metabolism
Ferritins blood
Genetic Diseases, X-Linked blood
Iron blood
Mitochondria metabolism
Mitochondrial Proteins blood
Reticulocytes metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 0006-4971
- Volume :
- 101
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Blood
- Publication Type :
- Academic Journal
- Accession number :
- 12406866
- Full Text :
- https://doi.org/10.1182/blood-2002-07-2006