{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:19:02Z","timestamp":1791296342562,"version":"4.1.0"},"reference-count":26,"publisher":"American Society of Hematology","issue":"5","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2003,3,1]]},"abstract":"<jats:p>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 (SpearmanR\u2009=\u20090.90; P\u2009&lt;\u2009.0001). 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.<\/jats:p>","DOI":"10.1182\/blood-2002-07-2006","type":"journal-article","created":{"date-parts":[[2003,2,12]],"date-time":"2003-02-12T14:59:36Z","timestamp":1045061976000},"page":"1996-2000","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":163,"title":["Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia"],"prefix":"10.1182","volume":"101","author":[{"given":"Mario","family":"Cazzola","sequence":"first","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosangela","family":"Invernizzi","sequence":"additional","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano","family":"Bergamaschi","sequence":"additional","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Levi","sequence":"additional","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Corsi","sequence":"additional","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Travaglino","sequence":"additional","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Rolandi","sequence":"additional","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Biasiotto","sequence":"additional","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jim","family":"Drysdale","sequence":"additional","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Arosio","sequence":"additional","affiliation":[{"name":"From the Department of Hematology and Department of Internal Medicine and Medical Therapy, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S Matteo, Pavia, Italy; Protein Engineering Unit, DIBIT IRCCS S Raffaele Hospital, Milan, Italy; Department of Pediatrics and Biomedical Technology, University of Brescia School of Medicine, Brescia, Italy; and Department of Biochemistry, Tufts University School of Medicine, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2019111821202547700_B1","volume-title":"Red Cell Manual.","author":"Hillman","year":"1985"},{"key":"2019111821202547700_B2","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1046\/j.0007-1048.2002.03378.x","article-title":"Sideroblastic anaemias.","volume":"116","author":"Alcindor","year":"2002","journal-title":"Br J Haematol."},{"key":"2019111821202547700_B3","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1097\/00062752-199603020-00011","article-title":"The molecular basis of the sideroblastic anemias.","volume":"3","author":"Fitzsimons","year":"1996","journal-title":"Curr Opin Hematol."},{"key":"2019111821202547700_B4","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1093\/hmg\/10.20.2181","article-title":"Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.","volume":"10","author":"Roy","year":"2001","journal-title":"Hum Mol Genet."},{"key":"2019111821202547700_B5","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1111\/j.1365-2141.1990.tb06379.x","article-title":"Immunocytochemical detection of ferritin in human bone marrow and peripheral blood cells using monoclonal antibodies specific for the H and L subunits.","volume":"76","author":"Invernizzi","year":"1990","journal-title":"Br J Haematol."},{"key":"2019111821202547700_B6","doi-asserted-by":"crossref","first-page":"3505","DOI":"10.1182\/blood.V99.10.3505","article-title":"Regulation of ferritin genes and protein.","volume":"99","author":"Torti","year":"2002","journal-title":"Blood."},{"key":"2019111821202547700_B7","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1042\/bj2880591","article-title":"Evidence that H- and L-chains have co-operative roles in the iron-uptake mechanism of human ferritin.","volume":"288","author":"Levi","year":"1992","journal-title":"Biochem J."},{"key":"2019111821202547700_B8","doi-asserted-by":"crossref","first-page":"24437","DOI":"10.1074\/jbc.C100141200","article-title":"A human mitochondrial ferritin encoded by an intronless gene.","volume":"276","author":"Levi","year":"2001","journal-title":"J Biol Chem."},{"key":"2019111821202547700_B9","doi-asserted-by":"crossref","first-page":"22430","DOI":"10.1074\/jbc.M105372200","article-title":"Human mitochondrial ferritin expressed in HeLa cells incorporates iron and affects cellular iron metabolism.","volume":"277","author":"Corsi","year":"2002","journal-title":"J Biol Chem."},{"key":"2019111821202547700_B10","doi-asserted-by":"crossref","first-page":"3835","DOI":"10.1200\/JCO.1999.17.12.3835","article-title":"World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting. 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