Recent advances in the understanding of inherited sideroblastic anaemia.

  title={Recent advances in the understanding of inherited sideroblastic anaemia.},
  author={Clara Camaschella},
  journal={British journal of haematology},
  volume={143 1},
Sideroblastic anaemia includes a heterogeneous group of rare conditions, characterized by decreased haem synthesis and mitochondrial iron overload, which are diagnosed by the presence of ringed sideroblasts in the bone marrow aspirate. 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… CONTINUE READING


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