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Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.

Camaschella C.

Semin Hematol. 2009 Oct;46(4):371-7. Review.PMID: 19786205 [PubMed - indexed for MEDLINE]Related articles

Congenital sideroblastic anemia: a report of two cases.

Gupta SK, Rao S, Kar R, Tyagi S, Pati HP.

Indian J Pathol Microbiol. 2009 Jul-Sep;52(3):424-6.PMID: 19679982 [PubMed - indexed for MEDLINE]Related articlesFree article

Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.

Sussman NL, Lee PL, Dries AM, Schwartz MR, Barton JC.

Acta Haematol. 2008;120(3):168-73. Epub 2008 Dec 10.PMID: 19066423 [PubMed - indexed for MEDLINE]Related articles

X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.

Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A, Hildebrandt B, Haas R, Bottomley SS.

Blood Cells Mol Dis. 2006 Jul-Aug;37(1):40-5. Epub 2006 Jun 2.PMID: 16735131 [PubMed - indexed for MEDLINE]Related articles

Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.

Barton JC, Lee PL.

Blood Cells Mol Dis. 2006 May-Jun;36(3):342-6. Epub 2006 Mar 15.PMID: 16540354 [PubMed - indexed for MEDLINE]Related articles

Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.

Astner I, Schulze JO, van den Heuvel J, Jahn D, Schubert WD, Heinz DW.

EMBO J. 2005 Sep 21;24(18):3166-77. Epub 2005 Aug 25.PMID: 16121195 [PubMed - indexed for MEDLINE]Related articlesFree article

Onset of X-linked sideroblastic anemia in the fourth decade.

Cortesão E, Vidan J, Pereira J, Gonçalves P, Ribeiro ML, Tamagnini G.

Haematologica. 2004 Oct;89(10):1261-3.PMID: 15477213 [PubMed - indexed for MEDLINE]Related articlesFree article

Iron overload due to X-linked sideroblastic anemia in an African American man.

Collins TS, Arcasoy MO.

Am J Med. 2004 Apr 1;116(7):501-2. No abstract available. PMID: 15047047 [PubMed - indexed for MEDLINE]Related articles

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

Bekri S, May A, Cotter PD, Al-Sabah AI, Guo X, Masters GS, Bishop DF.

Blood. 2003 Jul 15;102(2):698-704. Epub 2003 Mar 27.PMID: 12663458 [PubMed - indexed for MEDLINE]Related articlesFree article

Late-onset X-linked sideroblastic anemia following hemodialysis.

Furuyama K, Harigae H, Kinoshita C, Shimada T, Miyaoka K, Kanda C, Maruyama Y, Shibahara S, Sassa S.

Blood. 2003 Jun 1;101(11):4623-4. Epub 2003 Jan 16.PMID: 12531813 [PubMed - indexed for MEDLINE]Related articlesFree article

Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia.

Cazzola M, Invernizzi R, Bergamaschi G, Levi S, Corsi B, Travaglino E, Rolandi V, Biasiotto G, Drysdale J, Arosio P.

Blood. 2003 Mar 1;101(5):1996-2000. Epub 2002 Oct 24.PMID: 12406866 [PubMed - indexed for MEDLINE]Related articlesFree article

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.

Cazzola M, May A, Bergamaschi G, Cerani P, Ferrillo S, Bishop DF.

Blood. 2002 Dec 1;100(12):4236-8. Epub 2002 Aug 8.PMID: 12393718 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.

Hurford MT, Marshall-Taylor C, Vicki SL, Zhou JZ, Silverman LM, Rezuke WN, Altman A, Tsongalis GJ.

Clin Chim Acta. 2002 Jul;321(1-2):49-53.PMID: 12031592 [PubMed - indexed for MEDLINE]Related articles

Multiple mechanisms for hereditary sideroblastic anemia.

Furuyama K, Sassa S.

Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):5-10. Review.PMID: 11929048 [PubMed - indexed for MEDLINE]Related articles

X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia.

Aivado M, Gattermann N, Bottomley S.

Blood. 2001 Jun 15;97(12):4000-2. No abstract available. PMID: 11405213 [PubMed - indexed for MEDLINE]Related articlesFree article

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.

Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF.

Blood. 2000 Dec 15;96(13):4363-5.PMID: 11110715 [PubMed - indexed for MEDLINE]Related articlesFree article

Animal models for X-linked sideroblastic anemia.

Yamamoto M, Nakajima O.

Int J Hematol. 2000 Aug;72(2):157-64. Review.PMID: 11039663 [PubMed - indexed for MEDLINE]Related articles

Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.

Furuyama K, Sassa S.

J Clin Invest. 2000 Mar;105(6):757-64.PMID: 10727444 [PubMed - indexed for MEDLINE]Related articlesFree article

Soluble transferrin receptor as a potential determinant of iron loading in congenital anaemias due to ineffective erythropoiesis.

Cazzola M, Beguin Y, Bergamaschi G, Guarnone R, Cerani P, Barella S, Cao A, Galanello R.

Br J Haematol. 1999 Sep;106(3):752-5.PMID: 10468869 [PubMed - indexed for MEDLINE]Related articles

Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.

Cotter PD, May A, Li L, Al-Sabah AI, Fitzsimons EJ, Cazzola M, Bishop DF.

Blood. 1999 Mar 1;93(5):1757-69.PMID: 10029606 [PubMed - indexed for MEDLINE]Related articlesFree article