The location and codon change of a majority of mutations in the erythroid 5-aminolevulinate synthase (ALAS2) gene in patients with X-linked sideroblastic anemia are shown here.[1-4] Two mutations found in the promoter region (c.-206C>G; c.-91_-44del) and four mutations in intron 1 are not indicated.[1-3] Approximately one-fifth of the mutations occurred in more than one unrelated proband or family; nearly one-third of the probands are female.
Bottomley SS, Fleming MD. Sideroblastic anemias. In: Wintrobe's Clinical Hematology, 14th ed, Greer JP, Arber DA, Glader B, et al (Eds), Wolters Kluwer, Philadelphia 2019. p.644.
Kaneko K, Furuyama K, Fujiwara T, et al. Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. Haematologica 2014; 99:252.
Campagna DR, de Bie CI, Schmitz-Abe K, et al. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA binding site mutations. Am J Hematol 2014; 89:315.
The Human Gene Mutation Database; HGMD®Professional 2017. Available at: http://www.hgmd.cf.ac.uk (Accessed February 7, 2019).
