Diagnosis and Treatment of Iron Disorders.

摘要：铁缺乏或超负荷综合征是全球数十亿人病理学的主要原因。虽然地中海贫血综合征最常与铁过载相关，但导致无效红细胞生成的其他贫血（骨髓增生异常综合征，铁粒幼细胞性贫血，先天性红细胞生成不良性贫血，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）也表现出铁过载。输血治疗和基因突变也可能引起铁超载。因此，患者会出现多种内分泌异常，包括糖尿病、肝功能衰竭、心力衰竭和骨病变。在我们的实验室中采取了一种基于信息的方法来鉴定可能参与这种疾病过程的成红细胞蛋白。在候选分子中，研究了名为GDF15的细胞因子，并确定其通过抑制铁调素产生来调节铁。已经进行了额外的研究以探索其他候选分子并确定GDF15在人类疾病中的其他功能。

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 determine other functions of GDF15 in human disease.