Article
X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguise.
The Netherlands journal of medicine - 1 May 2014
Donker A E, Raymakers R A, Nieuwenhuis H K, Coenen M J H, Janssen M C, MacKenzie M A, Brons P P T, Swinkels D W
Abstract excerpt
BACKGROUND: X-linked sideroblastic anaemia (XLSA; OMIM#300751) is the most common inherited form of sideroblastic anaemia and is associated with several mutations in the erythroid specific 5-aminolevulinate synthase gene (ALAS₂). This gene encodes for aminolevulinic acid synthase 2 (ALAS₂), the catalytic enzyme involved in the first en rate-limiting step of haem biosynthesis.1-3 The disorder is characterised by...
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