Marked microcytosis and increased transferrin saturation: Think about variants in SLC11A2 (DMT1)

IF 2.1 4区医学 Q3 HEMATOLOGY

Blood Cells Molecules and Diseases Pub Date : 2024-11-02 DOI:10.1016/j.bcmd.2024.102898

Alexandre Raynor , Katell Peoc'h , Camille Boi , Hana Manceau , Serge Pissard , Karim Diallo , Caroline Kannengiesser , Pierre Rohrlich

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引用次数: 0

Abstract

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.

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明显的小红细胞症和转铁蛋白饱和度升高：考虑 SLC11A2（DMT1）的变异。

先天性小红细胞性贫血是一种罕见的疾病，与血红蛋白合成减少和红细胞体积小有关。DMT1/NRAMP2 是一种高度保守的二价阳离子转运体，由 SLC11A2 基因编码，在各种细胞膜上表达。它能确保肠细胞顶膜吸收亚铁，肾小管从尿液中回收铁，以及转铁蛋白内化后酸化内质体的吸收。迄今为止，已在 10 个个体中描述了致病性 DMT1 变体，这些变体与隐性低色素性贫血和铁超载有关。在此，我们报告了一种新的 SLC11A2 变体（c.469A>G，p.Ile157Val）与已知的 p.Arg416Cys 复合体，该变体与坦率的小红细胞性贫血和转铁蛋白饱和度增高有关。该患者的临床症状非常轻微，将 DMT1 表型的范围扩大到了边缘性贫血。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Blood Cells Molecules and Diseases 医学-血液学

CiteScore

4.90

自引率

0.00%

发文量

审稿时长

14 days

期刊介绍： Blood Cells, Molecules & Diseases emphasizes not only blood cells, but also covers the molecular basis of hematologic disease and studies of the diseases themselves. This is an invaluable resource to all those interested in the study of hematology, cell biology, immunology, and human genetics.