摘要
貧血是當今台灣乃至全球十分常見的疾病之一，而貧血成因中約有五成病患是因鐵缺乏引起。本文首先探討缺鐵性貧血的兩個重要因子：鐵缺乏、貧血。從檢驗醫學和生理學的角度，討論其意義。目前有眾多檢查可資診斷缺鐵性貧血，當中準確性最高的指標是血清鐵蛋白（Ferritin）濃度。缺鐵性貧血的治療方式以口服鐵劑為主，但少數病患對口服甚至靜脈注射鐵劑療效不佳，臨床上需仔細找尋難以治療的原因，以做為後續治療和預防的方針。其中，乳糜瀉、自體免疫性胃炎、胃幽門螺旋桿菌感染、基因遺傳等四種，為難以治療的缺鐵性貧血患者中常見的原因。此外，TMPRSS6的基因突變和基因多型性也可能導致難以治療的缺鐵性貧血，其對於臨床的重要性尚待進一步研究。
並列摘要
Anemia is one of the most common diseases in Taiwan and the world. About one-half of anemia cases are caused by iron-deficiency. We first discuss the significance of two major components of iron-deficiency anemia, namely iron-deficiency and anemia, from physiologic and laboratory perspectives. Many methods are being used to diagnose iron-deficiency anemia, among which the most accurate indicator is serum ferritin level. Oral iron supplementation is the mainstay treatment of iron-deficiency anemia. However, a small number of patients do not respond well to oral or even parenteral iron supplementation. Possible reasons of treatment failure should be sought to guide further treatment and prevention strategies. Celiac disease, autoimmune gastritis, Helicobacter pylori infection, and genetic inheritance are four common etiologies of refractory iron-deficiency anemia. Besides, mutations and polymorphisms of the TMPRSS6 gene may also lead to refractory iron-deficiency anemia. Yet further studies are warranted to determine the clinical importance of the gene.