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Article

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.

Pediatric blood & cancer - 1 Feb 2010

Bergmann Anke K, Campagna Dean R, McLoughlin Erin M, Agarwal Suneet, Fleming Mark D, Bottomley Sylvia S, Neufeld Ellis J

Abstract excerpt

BACKGROUND: Sideroblastic anemias are heterogeneous congenital and acquired bone marrow disorders characterized by pathologic iron deposits in mitochondria of erythroid precursors. Among the congenital sideroblastic anemias (CSAs), the most common form is X-linked sideroblastic anemia, due to mutations in 5-aminolevulinate synthase (ALAS2). A novel autosomal recessive CSA, caused by mutations in the erythroid...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19731322
DOI: 10.1002/pbc.22244
PMCID: PMC2843911

Genes

ABCB7
ALAS2
GLRX5
PUS1

Provenance

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