Article
Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation.
PloS one - 1 Jan 2012
Kloss-Brandstätter Anita, Erhart Gertraud, Lamina Claudia, Meister Bernhard, Haun Margot, Coassin Stefan, Seifert Markus, Klein-Franke Andreas, Paulweber Bernhard, Kedenko Lyudmyla, Kollerits Barbara, Swinkels Dorine W, Vermeulen Sita H, Galesloot Tessel E, Kronenberg Florian, Weiss Günter
Abstract excerpt
BACKGROUND: Iron-refractory iron deficiency anaemia (IRIDA) is a rare disorder which was linked to mutations in two genes (SLC11A2 and TMPRSS6). Common polymorphisms within these genes were associated with serum iron levels. We identified a family of Serbian origin with asymptomatic non-consanguineous parents with three of four children presenting with IRIDA not responding to oral but to intravenous iron...
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