Aboul-Enein Azza, El-Beshlawy Amal, Hamdy Mona, Shaheen Iman, El-Saadany Zainab, Samir Ahmed, El-Samie Hala Abd
Clinical Pathology Department, Cairo University, Cairo, Egypt.
Pediatric Department, Cairo University, Cairo, Egypt.
Gene. 2015 Jun 15;564(2):206-9. doi: 10.1016/j.gene.2015.03.048. Epub 2015 Mar 25.
Iron overload is the major cause of morbidity and mortality in transfusion dependent β-thalassemia major patients. There is a sophisticated balance of body iron metabolism of storage and transport which is regulated by several factors including the peptide hepcidin. Hepcidin is the main iron regulatory molecule; it is secreted mainly by the liver and other tissues including monocytes and lymphocytes. Expression of hepcidin in such cells is unclear and has been studied in few reports with controverted result. Peripheral expression of hepcidin was measured using quantitative real time PCR (qRT-PCR) in 50 β-thalassemia major patients, in addition to 20 healthy volunteers as a control group. Hepcidin levels in β-thalassemia major patients showed statistically significant decrease in comparison to the control group, and was correlated to cardiac iron stores (T2*). However, hepcidin level was not different among the patients according to the HCV status or whether splenectomized or not. In conclusion; peripheral expression of hepcidin, in iron overloaded β-thalassemia major patients, is a reflection of hepatic expression. It can be used as a molecular predictor for the severity of cardiac iron overload and can be used as a future target for therapy in β-thalassemia major patients.
铁过载是依赖输血的重型β地中海贫血患者发病和死亡的主要原因。人体铁代谢在储存和运输方面存在复杂的平衡，这一平衡受多种因素调节，包括肽类铁调素。铁调素是主要的铁调节分子；它主要由肝脏以及包括单核细胞和淋巴细胞在内的其他组织分泌。铁调素在这些细胞中的表达尚不清楚，仅有少数报告对其进行过研究，结果存在争议。除了20名健康志愿者作为对照组外，还使用定量实时PCR（qRT-PCR）检测了50例重型β地中海贫血患者外周血中铁调素的表达。与对照组相比，重型β地中海贫血患者的铁调素水平在统计学上显著降低，并且与心脏铁储存（T2*）相关。然而，根据丙型肝炎病毒（HCV）状态或是否进行脾切除术，患者之间的铁调素水平并无差异。总之，在铁过载的重型β地中海贫血患者中，外周血中铁调素的表达反映了肝脏的表达情况。它可作为心脏铁过载严重程度的分子预测指标，并可作为重型β地中海贫血患者未来的治疗靶点。
