Service de Biochimie, Hôpital Bichat, APHP, Nord, 75018 Paris, France; Université Paris Cité, INSERM UMRs-1149, HIROS Heme Iron and Oxidative Stress, Centre de recherche sur l'inflammation, 75018 Paris, France.
Service de Biochimie, Hôpital Bichat, APHP, Nord, 75018 Paris, France; Université Paris Cité, INSERM UMRs-1149, HIROS Heme Iron and Oxidative Stress, Centre de recherche sur l'inflammation, 75018 Paris, France; LBMR Maladies héréditaires du métabolisme (phénotype et génotype), Métabolisme des métaux (Fer), Hôpital Bichat, APHP, Nord, 75018 Paris, France; Université Paris Cité, UFR de Médecine Xavier Bichat, France.
Blood Cells Mol Dis. 2025 Feb;110:102898. doi: 10.1016/j.bcmd.2024.102898. Epub 2024 Nov 2.
Congenital microcytic anemias are rare diseases associated with decreased hemoglobin synthesis and red blood cells of low corpuscular volume. DMT1/NRAMP2 is a highly conserved divalent cation transporter encoded by the SLC11A2 gene, expressed at the membrane of various cells. It ensures ferrous iron absorption from the apical membrane of enterocytes, iron recovery from urine by renal tubules, and acidified endosome uptake after transferrin internalization. Pathogenic DMT1 variants have been described in 10 individuals to date, associated with recessive hypochromic anemia and iron overload. Herein, we report a new variant of SLC11A2 (c.469A>G, p.Ile157Val) compound with known p.Arg416Cys associated with a frankly microcytic anemia and increased transferrin saturation. The clinical picture observed in the patient was exceptionally mild, extending the field of the DMT1 phenotypes to borderline anemias.
先天性小细胞性贫血是一组与血红蛋白合成减少和红细胞体积小有关的罕见疾病。DMT1/NRAMP2 是由 SLC11A2 基因编码的高度保守的二价阳离子转运蛋白，在各种细胞的膜上表达。它确保了从肠上皮细胞的顶膜吸收亚铁，从肾小管中回收尿液中的铁，以及在转铁蛋白内化后摄取酸化的内体。迄今为止，已经在 10 个人中描述了致病性 DMT1 变体，与隐性低色素性贫血和铁过载有关。在此，我们报告了 SLC11A2 的一个新变体 (c.469A>G, p.Ile157Val)，与已知的 p.Arg416Cys 复合，与明显的小细胞性贫血和转铁蛋白饱和度增加有关。患者观察到的临床表现异常轻微，将 DMT1 表型的范围扩展到边缘性贫血。
