ピリドキシン抵抗性 常染色体劣性鉄芽球性貧血
X連鎖性鉄芽球性貧血
運動失調を伴うX連鎖性鉄芽球性貧血

Harigae H, Furuyama K

Hereditary sideroblastic anemia: pathophysiology and gene mutations.

Int J Hematol 92:425-31 (2010)
DOI:10.1007/s12185-010-0688-4

Cotter PD, Baumann M, Bishop DF

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

Proc Natl Acad Sci U S A 89:4028-32 (1992)
DOI:10.1073/pnas.89.9.4028

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

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

Nat Genet 41:651-3 (2009)
DOI:10.1038/ng.359

Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

Blood 110:1353-8 (2007)
DOI:10.1182/blood-2007-02-072520

Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Blood 126:2734-8 (2015)
DOI:10.1182/blood-2015-09-659854

Crispin A, Guo C, Chen C, Campagna DR, Schmidt PJ, Lichtenstein D, Cao C, Sendamarai AK, Hildick-Smith GJ, Huston NC, Boudreaux J, Bottomley SS, Heeney MM, Paw BH, Fleming MD, Ducamp S

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.

J Clin Invest 130:5245-5256 (2020)
DOI:10.1172/JCI135479

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 96:3256-64 (2000)
DOI:10.1182/blood.V96.9.3256