Hereditary forms

Cooley TB.

A severe type of hereditary anemia with elliptocytosis. Interesting sequence of splenectomy.
Am J Med Sci 1945;209:561-568.
Description: Cooley’s first description of the X-linked form of Sideroblastic anemia.
PubMed: N/A

Pearson HA, Lobel JS, Kocoshis SA, et al.

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.
J Pediatr 1979;95:976–984.
Description: The first clinical description of Pearson’s syndrome.
PubMed citation number: 501502

Fleming MD.

The genetics of inherited sideroblastic anemias.
Semin Hematol. 2002 Oct; 39(4):270-81.
Description: A review of hereditary sideroblastic anemias focusing on the molecular pathophysiology.
PubMed citation number: 12382202

X-linked sideroblastic anemia

Bottomley SS, May BK, Cox TC, Cotter PD, Bishop DF.

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia
J Bioenerg Biomembr 27:161-168, 1995.
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

X-linked sideroblastic anemia with ataxia (XLSA/A)

Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF.

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
Blood. 2000 Nov 1;96(9):3256-64.
Description: Demonstrated that the ABC7 mutation found in families with XLSA/A results in impaired maturation of cytosolic iron-sulfer cluster-containing proteins.
PubMed citation number: 11050011

Autosomally inherited SA

Kasturi J, Basha HM, Smeda SH, Swehli M.

Hereditary sideroblastic anaemia in 4 siblings of a Libyan family--autosomal inheritance.
Acta Haematol. 1982;68(4):321-4.
Description: An initial family reported with autosomal inheritance of SA.
PubMed citation number: 6817577

Acquired Idiopathic Sideroblastic Anemia (AISA)

Bjorkman SE.

Chronic refractory anemia with sideroblastic bone marrow. A study of four cases.
Blood 1956;11:250-259.
Description: First description of acquired idiopathic sideroblastic anemia.
PubMed citation number: 1329320

Prchal JT, Throckmorton DW, Carroll AJ 3rd, Fuson EW, Gams RA, Prchal JF.

A common progenitor for human myeloid and lymphoid cells.
Nature. 1978 Aug 10;274(5671):590-1.
Description: The first description of the clonal origin of AISA.
PubMed citation number: 672990.

Gattermann N.

From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndrome.
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

Germing U, Gattermann N, Aivado M, Hildebrandt B, Aul C.

Two types of acquired idiopathic sideroblastic anaemia (AISA): a time-tested distinction.
Br J Haematol. 2000 Mar;108(4):724-8.
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

Reversible sideroblastic anemias

Haden, HT.

Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs.
Arch Intern Med 1967; 120:602.
Description: Early clinical description of sideroblastic anemia from isoniazid and other antituberculous drugs.
PubMed citation number: 6054596

Eichner ER, Hillman RS.

The evolution of anemia in alcoholic patients.
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

Prodan CI, Holland NR, Wisdom PJ, Burstein SA, Bottomley SS.

CNS demyelination associated with copper deficiency and hyperzincemia. Neurology. 2002 Nov 12;59(9):1453-6.
Description: Description of a new syndrome of copper deficiency sideroblastic anemia and associated CNS demyelination.
PubMed citation number: 12427906

Other key aspects

Singh AK, Shinton NK, Williams JDF.

Ferrokinetic abnormalities and their significance in patients with sideroblastic anaemia.
Br J Haematol 1970;18:67–77.
Description: Describes the ineffective erythropoiesis of sideroblastic anemia.
PubMed citation number: 5416592

Bottomley SS.

Secondary iron overload disorders.
Semin Hematol 1998;35:77–86.
Description: Among other causes of non-hereditary 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

Matthes TW, Meyer G, Samii K, Beris P.

Increased apoptosis in acquired sideroblastic anaemia.
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

Levi S, Corsi B, Bosisio M, et al.

A human mitochondrial ferritin encoded by an intronless gene.
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

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