Assessment and Treatment of Iron Disorders.

摘要：铁缺乏或超载综合征是全球数十亿人病理的主要原因。虽然地中海贫血综合征最常与铁超载相关，但其他导致红细胞生成无效的贫血（骨髓增生异常综合征、铁母细胞性贫血、先天性红细胞生成障碍性贫血、恶性贫血）或需要频繁输血（镰状细胞综合征、再生障碍性贫血）也表现为铁超载。铁超载也可能由输血治疗和基因突变引起。结果，患者出现多种内分泌异常，包括糖尿病、肝功能衰竭、心力衰竭和骨病理。我们的实验室采用了一种基于信息的方法来鉴定可能参与这种疾病过程的红母细胞蛋白。在候选分子中，研究并确定了名为GDF15的细胞因子通过抑制hepcidin的产生来调节铁。已经进行了其他研究，以探索其他候选分子，并对人类铁生物学产生新的见解。

Summary: Iron deficiency or overload syndromes are a major cause of pathology in billions of humans worldwide. While thalassemia syndromes are most commonly associated with iron overload, other anemias that result in ineffective erythropoiesis (myelodysplastic syndromes, sideroblastic anemia, congenital dyserythropoietic anemia, pernicious anemia) or require frequent transfusions (sickle cell syndromes, aplastic anemia) also manifest iron overload. Iron overload may also be caused by transfusional therapy and genetic mutation. As a result, the patients develop multiple endocrine abnormalities including diabetes, liver failure, heart failure, and bone pathology. An information-based approach was taken in our laboratory to identify erythroblast proteins that may be involved in this diseases process. Among candidate molecules, the cytokine named GDF15 was studied and determined to regulate iron via inhibition of hepcidin production. Additional studies have been performed to explore other candidate molecules and to develop novel insights into iron biology in humans.