Sideroblastic Anemia
Pathophysiology
A severe type of hereditary anemia with elliptocytosis. Interesting sequence of splenectomy.
Cooley TB.
Am J Med Sci. 1945;209:561-568.
Description: Cooley’s first description of the X-linked form of sideroblastic anemia.
PubMed citation number: N/A
Chronic refractory anemia with sideroblastic bone marrow: a study of four cases.
Bjorkman SE.
Blood. 1956;11:250-259.
Description: First description of acquired idiopathic sideroblastic anemia.
PubMed citation number: 1329320
Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs.
Haden HT.
Arch Intern Med. 1967;120:602.
Description: Early clinical description of sideroblastic anemia from isoniazid and other antituberculous drugs. PubMed citation number: 6054596
Ferrokinetic abnormalities and their significance in patients with sideroblastic anemia.
Singh AK, Shinton NK, Williams JDF.
Br J Haematol. 1970;18:67-77.
Description: Describes the ineffective erythropoiesis of sideroblastic anemia.
PubMed citation number: 5416592
The evolution of anemia in alcoholic patients.
Eichner ER, Hillman RS.
Am J Med. 1971;50:218-232.353.
Description: Contains the definitive description, incidence, and time of occurrence of the ring sideroblastic defect in alcoholism.
PubMed citation number: 5545458
A common progenitor for human myeloid and lymphoid cells.
Prchal JT, Throckmorton DW, Carroll 3 rd AJ, Fuson EW, Gams RA, Prchal JF.
Nature. 1978;274:590-591.
Description: The first description of the clonal origin of AISA.
PubMed citation number: 672990
Hereditary sideroblastic anemia in four siblings of a Libyan family: autosomal inheritance.
Kasturi J, Basha HM, Smeda SH, Swehil M.
Acta Haematol. 1982;68:321-324.
Description: An initial family reported with autosomal inheritance of SA.
PubMed citation number: 6817577
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
Bottomley SS, May BK, Cox TC, Cotter PD, Bishop DF.
J Bioenerg Biomembr. 1995;27:161-168.
Description: Reviews the initially observed heterogeneous group of point mutations in the catalytic domain of the ALAS2 enzyme responsible for XLSA.
PubMed citation number: 7592563
From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndrome.
Gattermann N.
Leuk Res. 1999;24:141-151.
Description: A review of the significance of mitochondrial DNA mutations on iron metabolism and mitochondrial energy production in acquired idiopathic sideroblastic anemia and MDS.
PubMed citation number: 10654450
Increased apoptosis in acquired sideroblastic anemia.
Matthes TW, Meyer G, Samii K, Beris P.
Br J Haematol. 2000;111:843-852.
Description: Implicates the role of the mitochondria in the increased RBC precursor apoptosis found in sideroblastic anemias.
PubMed citation number: 11122146
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
Bekri S, Kispal G, Lange H, et al.
Blood. 2000;96:3256-3264.
Description: The authors demonstrated that the ABC7 mutation found in families with XLSA/A results in impaired maturation of cytosolic iron-sulfur cluster-containing proteins.
PubMed citation number: 11050011
A human mitochondrial ferritin encoded by an intronless gene.
Levi S, Corsi B, Bosisio M, et al.
J Biol Chem. 2001;276:24437-24440.
Description: Describes a novel mitochondrial ferritin that accumulates in erythroblast mitochondria in sideroblastic anemia.
PubMed citation number: 11323407
CNS demyelination associated with copper deficiency and hyperzincemia.
Prodan CI, Holland NR, Wisdom PJ, Burstein SA, Bottomley SS.
Neurology. 2002;59:1453-1456.
Description: Description of a new syndrome of copper deficiency sideroblastic anemia and associated CNS demyelination.
PubMed citation number: 12427906
Diagnosis
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.
Pearson HA, Lobel JS, Kocoshis SA, et al.
J Pediatr. 1979;95:976–984.
Description: The first clinical description of Pearson syndrome.
PubMed citation number: 501502
Two types of acquired idiopathic sideroblastic anaemia (AISA): a time-tested distinction.
Germing U, Gattermann N, Aivado M, Hildebrandt B, Aul C.
Br J Haematol. 2000;108:724-728.
Description: A prospective study demonstrating the valuable prognostic information provided by cytomorphological distinction between pure sideroblastic anemia (PSA), in which dysplasia is confined to erythropoietic cells, and a true myelodysplastic form (RARS), which is characterized by additional dysplastic features of granulopoiesis and/or megakaryopoiesis.
PubMed citation number: 10792275
Review
The genetics of inherited sideroblastic anemias.
Fleming MD.
Semin Hematol. 2002;39:270-281.
Description: A review of hereditary sideroblastic anemias, focusing on the molecular pathophysiology.
PubMed citation number: 12382202
Secondary iron overload disorders.
Bottomley SS.
Semin Hematol. 1998;35:77-86.
Description: Among other causes of nonhereditary hemochromatosis iron overload states, this review emphasizes the “erythropoietic hemochromatosis” that is often responsible for morbidity and early mortality in irreversible sideroblastic anemias.
PubMed citation number: 9460811