X-Linked Sideroblastic Anemia Induced by a Novel ALAS2 Nonsense Mutation: A Case Report and Literature Review

OBJECTIVE: To clarify the clinical manifestations of X-linked sideroblastic anemia (XLSA) and the mutational profiles of the aminolevulinate synthase 2 (ALAS2) gene, thereby optimizing treatment and prognosis. CASE REPORT: The proband, a 16-year-old male student, presented with microcytic hypochromic anemia, with hemoglobin (Hb) 55 g/L, red cell distribution width (RDW) 22.5%, mean corpuscular hemoglobin concentration (MCHC) 314 g/L, mean corpuscular hemoglobin (MCH) 23.9 pg, and mean corpuscular volume (MCV) 76.1 fL. Next-generation sequencing followed by Sanger sequencing of his family identified a de novo heterozygous nonsense mutation in ALAS2 (c.224C>A); this identification led to the final diagnosis of XLSA with a novel ALAS2 mutation. DISCUSSION: Incorporating genetic analyses into diagnostic algorithms can improve the precision of XLSA diagnosis and support personalized treatment strategies for patients and families. CONCLUSIONS: Our findings expand the mutational spectrum of ALAS2 and highlight that integrating next-generation sequencing (NGS) with Sanger validation into diagnostic workflows can significantly improve the diagnostic accuracy of XLSA.