X-linked sideroblastic anaemia
The most frequent form is X-linked sideroblastic anaemia, caused by mutations of delta-aminolevulinic acid synthase 2 (ALAS2), the enzyme that catalyses the first and regulatory step of haem synthesis in erythroid precursors and is post-transcriptionally controlled by the iron regulatory proteins.
The most frequent form is <span class="disease" id="18637800-2-26-56">X-linked sideroblastic anaemia</span>, caused by mutations of delta-aminolevulinic acid synthase 2 (<span class="gene" id="18637800-2-119-124">ALAS2</span>), the enzyme that catalyses the first and regulatory step of haem synthesis in erythroid precursors and is post-transcriptionally controlled by the iron regulatory proteins.