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Article

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

Blood cells, molecules & diseases - 1 Jul 2017

Le Rouzic Marie-Amelyne, Fouquet Cyrielle, Leblanc Thierry, Touati Mohamed, Fouyssac Fanny, Vermylen Christiane, Jäkel Nadja, Guichard Jean-François, Maloum Karim, Toutain Fabienne, Lutz Patrick, Perel Yves, Manceau Hana, Kannengiesser Caroline, Vannier Jean-Pierre

Abstract excerpt

The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the development of children. Our multicentre retrospective descriptive study compared the strategies for diagnosis and management of congenital sideroblastic anemia...

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Identifiers

PMID: 28772256
DOI: 10.1016/j.bcmd.2017.07.003

Genes

ALAS2

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