KEGG DISEASE: Sideroblastic anemia

DISEASE: Sideroblastic anemia

Entry

H00982                      Disease

Name

Sideroblastic anemia

Subgroup

Pyridoxine-refractory autosomal recessive sideroblastic anemia (PRARSA)
X-linked sideroblastic anemia (XLSA)
X-linked sideroblastic anemia with ataxia (ASAT)

Description

Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biogenesis or transport, and mitochondrial metabolism.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A72  Sideroblastic anaemia
    H00982  Sideroblastic anemia

Pathway

hsa00860

Porphyrin metabolism

Gene

(SIDBA1) ALAS2 [HSA:212] [KO:K00643]
(SIDBA2) SLC25A38 [HSA:54977] [KO:K15118]
(SIDBA3) GLRX5 [HSA:51218] [KO:K07390]
(SIDBA4) HSPA9 [HSA:3313] [KO:K04043]
(SIDBA5) HSCB [HSA:150274] [KO:K04082]
(ASAT) ABCB7 [HSA:22] [KO:K05662]

Comment

Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is described in H00898. [DS:H00898]

Other DBs

ICD-11:

3A72

ICD-10:

D64.0 D64.3

OMIM:

300751 205950 616860 182170 619523 301310

Reference

PMID:20848343

Authors

Harigae H, Furuyama K

Title

Hereditary sideroblastic anemia: pathophysiology and gene mutations.

Journal

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

Reference

PMID:1570328 (ALAS2)

Authors

Cotter PD, Baumann M, Bishop DF

Title

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

Journal

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

Reference

PMID:19412178 (SLC25A38)

Authors

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

Title

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

Journal

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

Reference

PMID:17485548 (GLRX5)

Authors

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

Title

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

Journal

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

Reference

PMID:26491070 (HSPA9)

Authors

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

Title

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

Journal

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

Reference

PMID:32634119 (HSCB)

Authors

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

Title

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

Journal

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

Reference

PMID:11050011 (ABCB7)

Authors

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

Title

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.

Journal

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

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Disease (6)   
   OMIM (6)   
Gene (12)   
   KEGG ORTHOLOGY (6)   
   KEGG GENES (6)   
Literature (7)   
   PubMed (7)   
All databases (25)   

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