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Article

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.

Haematologica - 1 Jun 2011

Kannengiesser Caroline, Sanchez Mayka, Sweeney Marion, Hetet Gilles, Kerr Briedgeen, Moran Erica, Fuster Soler Jose L, Maloum Karim, Matthes Thomas, Oudot Caroline, Lascaux Axelle, Pondarré Corinne, Sevilla Navarro Julian, Vidyatilake Sudharma, Beaumont Carole, Grandchamp Bernard, May Alison

Abstract excerpt

BACKGROUND: Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome. The most common cause of non-syndromic, microcytic sideroblastic anemia is a defect in the X-linked 5-aminolevulinate synthase 2 gene but this is not always present. Recently, variations in the...

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Share to Amino Acid Substitution
Share to Anemia, Sideroblastic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mitochondrial Membrane Transport Proteins

Share to Models, Molecular

Share to Mutation, Missense

Share to Protein Structure, Secondary

Share to Sequence Alignment

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Identifiers

PMID: 21393332
DOI: 10.3324/haematol.2010.039164
PMCID: PMC3105641

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