Congenital sideroblastic anemias - PubMed (original) (raw)
Affiliations
- PMID: 16537045
Review
Congenital sideroblastic anemias
Sylvia S Bottomley. Curr Hematol Rep. 2006 Mar.
Abstract
Congenital forms of sideroblastic anemia constitute a subset of uncommon disorders within the wider spectrum of sideroblastic anemias, all of which are diagnosed by the presence of pathologic iron deposits in erythroblast mitochondria. The congenital sideroblastic anemias are heterogeneous disorders; some arise from known molecular defects but others are diagnosed only by their clinical features. Elucidation of several of the underlying defects has advanced our understanding of heme biosynthesis and iron metabolism in the erythroid cell. With the details of the porphyrin synthetic pathway clarified, now the important frontier of research is investigation of the mechanisms of mitochondrial and cellular iron homeostasis and their relationship to the regulation of heme biosynthesis. Knowledge gained from efforts in this area of study may also provide new approaches to treatments, which remain largely supportive for most types of congenital sideroblastic anemia.
Similar articles
- Mitochondrial iron metabolism and sideroblastic anemia.
Sheftel AD, Richardson DR, Prchal J, Ponka P. Sheftel AD, et al. Acta Haematol. 2009;122(2-3):120-33. doi: 10.1159/000243796. Epub 2009 Nov 10. Acta Haematol. 2009. PMID: 19907149 - The genetics of inherited sideroblastic anemias.
Fleming MD. Fleming MD. Semin Hematol. 2002 Oct;39(4):270-81. doi: 10.1053/shem.2002.35637. Semin Hematol. 2002. PMID: 12382202 Review. - Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.
Fleming MD. Fleming MD. Hematology Am Soc Hematol Educ Program. 2011;2011:525-31. doi: 10.1182/asheducation-2011.1.525. Hematology Am Soc Hematol Educ Program. 2011. PMID: 22160084 Review. - Congenital sideroblastic anemia without clinical iron overload. A case report.
Pignon JM, Breton-Gorius J, Bachir D, Rochant H. Pignon JM, et al. Nouv Rev Fr Hematol (1978). 1990;32(4):281-4. Nouv Rev Fr Hematol (1978). 1990. PMID: 2290714 - Sideroblastic anemia: diagnosis and management.
Bottomley SS, Fleming MD. Bottomley SS, et al. Hematol Oncol Clin North Am. 2014 Aug;28(4):653-70, v. doi: 10.1016/j.hoc.2014.04.008. Epub 2014 Jun 2. Hematol Oncol Clin North Am. 2014. PMID: 25064706 Review.
Cited by
- SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.
Martin FM, Xu X, von Löhneysen K, Gilmartin TJ, Friedman JS. Martin FM, et al. PLoS One. 2011 Feb 4;6(2):e16894. doi: 10.1371/journal.pone.0016894. PLoS One. 2011. PMID: 21326867 Free PMC article. - Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis.
Iolascon A, De Falco L, Beaumont C. Iolascon A, et al. Haematologica. 2009 Mar;94(3):395-408. doi: 10.3324/haematol.13619. Epub 2009 Jan 30. Haematologica. 2009. PMID: 19181781 Free PMC article. Review. - Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME. Guernsey DL, et al. Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3. Nat Genet. 2009. PMID: 19412178 - Iron-sulfur cluster biogenesis and human disease.
Rouault TA, Tong WH. Rouault TA, et al. Trends Genet. 2008 Aug;24(8):398-407. doi: 10.1016/j.tig.2008.05.008. Epub 2008 Jul 5. Trends Genet. 2008. PMID: 18606475 Free PMC article. Review. - Erythroid heme biosynthesis and its disorders.
Dailey HA, Meissner PN. Dailey HA, et al. Cold Spring Harb Perspect Med. 2013 Apr 1;3(4):a011676. doi: 10.1101/cshperspect.a011676. Cold Spring Harb Perspect Med. 2013. PMID: 23471474 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Medical