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Published on: June 15, 2011
X-Linked Sideroblastic Anemia Induced by a Novel ALAS2 Nonsense Mutation: A Case Report and Literature Review
Hang Yin1, Qing Shen2, Chun-Li Xu3,4
1Department of Hematology, the Second Affiliated Hospital of Wannan Medical College, Wuhu, China.
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.
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