Genetic and clinical heterogeneity of ferroportin disease

Ferroportin is encoded by the SLC40A1 gene and mediates iron export from cells by interacting with hepcidin. SLC40A1 gene mutations are associated with an autosomal type of genetic iron overload described as haemochromatosis type 4, or HFE4 (Online Mendelian Inheritance in Man number 606069), or ferroportin disease. We report three families with this condition caused by novel SLC40A1 mutations. Denaturing high-performance liquid chromatography was employed to scan for the SLC40A1 gene. A D181V (A846T) mutation in exon 6 of the ferroportin gene was detected in the affected members of an Italian family and shown to have a de novo origin in a maternal germinal line. This mutation was associated with both parenchymal and reticuloendothelial iron overload in the liver, and with reduced urinary hepcidin excretion. A G80V (G543T) mutation in exon 3 was found in the affected members of an Italian family with autosomal hyperferritinaemia,. Finally, a G267D (G1104A) mutation was identified in exon 7 in a family of Chinese descent whose members presented with isolated hyperferritinaemia. Ferroportin disease represents a protean genetic condition in which the different SLC40A1 mutations appear to be responsible for phenotypic variability. This condition should be considered not only in families with autosomal iron overload or hyperferritinaemia, but also in cases of unexplained hyperferritinaemia.     

甲胎蛋白、甲胎蛋白异质体、铁蛋白和肿瘤相关因子联合检测在原发性肝癌诊断中的价值

目的:探讨甲胎蛋白(AFP)、甲胎蛋白异质体(AFP-L3)、铁蛋白(Fer)和肿瘤相关因子(TSGF)联合检测对原发性肝癌(PHC)早期诊断的临床价值。方法:对80例原发性肝癌组、60例良性肝病组和60例健康人群的AFP、AFP-L3、Fer和TSGF分别采用化学发光微粒子免疫分析法、亲和吸附法、微粒子酶促化学发光法以及酶联免疫吸附法检测其含量。结果:AFP、AFP-L3、Fer和TSGF单个肿癌标志物诊断原发性肝癌的敏感性分别为87.5%、85.0%、90.9%、88.8%,特异性分别为94.8%、97.0%、86.5%、85.3%;四种肿瘤标志物联合检测在PHC诊断中的敏感性和特异性分别为98.9%和99.8%,联合检测的敏感性与单项检测有统计学意义(P<0.01)。结论:应用AFP、AFP-L3、Fer和TSGF联合检测可大大提高原发性肝癌的检出率。     

124例萎缩性舌炎相关因素分析

目的：分析萎缩性舌炎（atrophic glossitis,AG）与贫血及相关因子、贫血类型及其他相关因素（口腔念珠菌感染、口干症）的关系。方法：收集124例萎缩性舌炎患者和53例健康对照者,检测2组血红蛋白（Hb）、平均红细胞体积（MCV）、维生素B12、铁蛋白、叶酸含量、是否伴贫血及贫血类型、是否伴口干症及念珠菌感染。采用SPSS 20.0软件包对数据进行统计学分析。结果：124例患者中,伴发贫血占48.39%,伴发口干症占41.94%,伴发念珠菌感染占79.03%。伴维生素B12缺乏占29.03%,伴铁蛋白缺乏占22.58%,伴叶酸缺乏占11.29%。舌炎组血红蛋白、铁蛋白、维生素B12含量显著低于对照组（P<0.05）,伴发贫血、口干症和念珠菌感染人数显著高于对照组（P<0.05）。结论：萎缩性舌炎发生与贫血、维生素B12缺乏、铁蛋白缺乏、口干症、口腔念珠菌感染密切相关,与叶酸缺乏不存在相关性。萎缩性舌炎伴发贫血患者中,伴大细胞性贫血情况尤为突出。     

Hepcidin as a diagnostic marker of iron deficiency in blood donors

BackgroundBlood donors are prone to have iron deficiency. The aim of this study was to determine utility of serum hepcidin as an indicator of iron deficiency in blood donors.MethodsA total of 200 voluntary, healthy blood donors were included in the study. Donors were categorized into four groups according to the donation frequency. Group I: (n = 50) who donated for the first time, or those who have not donated in the past 2 years (reactivated donors). Group II: (n = 50), who donated blood for the second time and had donated once in the previous 12 months. Group III: (n = 50), who donated blood for third time and had donated twice in the previous 12 months. Group IV: (n = 50) who donated blood for the fourth time and had donated thrice in the previous 12 months. Sera of study participants were evaluated for serum ferritin and serum hepcidin levels based on enzyme linked immunosorbent assay.ResultsSerum hepcidin concentration ranged 2.36?15734 pg/mL. Serum hepcidin and serum ferritin were found to be lowest in group IV donors. When serum ferritin concentration of less than 15 ng/mL was considered as gold standard for diagnosing iron deficiency, AUCROC for serum hepcidin as a diagnostic test of iron deficiency was found to be 0.715. Serum hepcidin showed statistical significant correlation with donation frequency(p = 0 .005) and serum ferritin (p = 0.01). Sensitivity and specificity of serum hepcidin was found to be 77.8 %, 79.6 % respectively.ConclusionEffectiveness of Serum hepcidin as a diagnostic marker of iron deficiency still needs to be determined.     

血液透析患者贫血相关因素分析

目的 通过了解维持性血液透析患者贫血状态,分析贫血相关因素,并根据数据调整治疗方案,改善患者生存质量.方法 收集2012年3月在广东省人民医院血液净化中心维持性血液透析超过3个月的患者的临床和实验室资料,分析患者贫血的相关因素.结果 共收集384例患者,平均透析龄42.22±38.26月.其中血红蛋白（Hb）未达到110g/L者247例.Hb未达标者与Hb达标患者相比,URR,Kt/V,血压、血钾、血钙、血磷、低密度脂蛋白水平均无明显差异（P＞0.05）,但血浆白蛋白（P=0.012）、血清铁（P=0.018）、铁蛋白（P=0.024）、尿酸（P=0.012）、肌酐（P=0.018）、甲状旁腺素（P=0.006）、碱性磷酸酶（P=0.044）与贫血相关.多因素分析显示,男性、血清铁升高有利于贫血的纠正,而血清铁蛋白增高、甲状旁腺素增高、碱性磷酸酶升高患者贫血更难纠正.结论 在保证足够的铁储备情况下,增加铁利用,控制患者的继发性甲状旁腺功能亢进,减轻患者高动力骨病的发生,对控制患者的贫血有意义.     

海南黎族孕妇α-地中海贫血及机体铁蛋白、维生素B_(12)和叶酸水平分析

目的:调查海南黎族孕妇α-地中海贫血基因携带率、基因类型以及机体铁蛋白、维生素B12和叶酸水平。方法:收集海南保亭、琼中、五指山、陵水4个地区黎族孕妇EDTA-K2抗凝全血及血清标本共239例,全自动血细胞分析仪检测红细胞相关参数,化学发光免疫分析仪检测血清铁蛋白、维生素B12和叶酸含量,同时用GAP-PCR法检测α-地贫3种常见基因缺失型。结果:海南黎族孕妇α-地贫基因携带率为63.18%,保亭、琼中、五指山和陵水地区分别为63.26%、46.97%、61.36%和77.50%,以静止型和标准型为主;铁蛋白缺乏率为54.81%,保亭、琼中、五指山和陵水地区分别为46.94%、54.55%、54.55%和60.00%,其中合并α-地贫和缺铁占35.56%;维生素B12缺乏者占0.84%,叶酸缺乏者占0.42%,合并维生素B12和叶酸缺乏占0.42%。黎族孕妇贫血发生率32.22%,所有标本中小细胞低色素性贫血104例占43.51%,其中单纯α-地贫31例占29.80%;单纯铁缺乏14例占13.46%,同时合并地贫和缺铁51例占49.04%,其他8例占7.69%。血象正常者中的α-地贫95.65%为静止型。结论:海南黎族孕妇α-地中海贫血和缺铁情况较严重,而叶酸和维生素B12无明显缺乏。需要加强黎族孕妇α-地中海贫血和缺铁防治,血象检查可作为有效的筛查手段。     

生血宁对缺铁性与失血性贫血造血功能的影响

目的观察生血宁对缺铁性与失血性贫血造血功能的影响。方法缺铁性贫血患者随机双盲分为生血宁治疗组和葡萄糖酸亚铁对照组各50例,剂量0.1 tid,连续服用30天。治疗前后各测一次血清铁(Fe)、总铁结合力(TIBC)、转铁蛋白饱和度(TS)、铁蛋白(SF)、转铁蛋白(Tf)、血清可溶性转铁蛋白受体(sTfR)、血常规等。将大鼠随机分成正常对照组、失血模型对照组、琥珀酸亚铁对照组(100mg/kg/d)、生血宁治疗组(100mg/kg/d),每组10只。除正常对照组外。其他三组每天尾端放血2ml,连续6天,使造成失血性贫血模型。第6天开始灌药或水。第24天取血测血常规。结果生血宁能促进红细胞、白细胞及血小板生成;能改善铁代谢,提高Fe、TS、SF,降低TIBC、Tf、sTfR;治缺铁性贫血总有效率为92％、显效率为82％、痊愈率62％。失血性贫血大鼠的血常规变化与临床研究相似。结论生血宁治疗缺铁性与失血性贫血效果明显,促进红细胞、白细胞及血小板生成。在分子水平能改善铁代谢,提高Fe、TS、SF,降低TIBC、Tf、sTfR。     

铁蛋白在头颈癌颈部淋巴结转移的预测作用

目的 探究血清铁蛋白在头颈癌患者体内的表达,并验证其是否可作为预测头颈癌转移的生物标志物。方法 比较肿瘤患者、癌前病变患者、炎症患者和正常对照之间血清铁蛋白水平的差异,并用ROC曲线验证铁蛋白和多普勒超声在有淋巴结转移和无淋巴结转移的头颈癌患者之间的区分效能。结果 肿瘤患者的血清铁蛋白水平显著高于非肿瘤患者,但与癌前病变相比具有一定的重叠。与无转移的头颈癌相比,有淋巴结转移的头颈癌患者的血清铁蛋白水平显著升高。与多普勒超声相比,铁蛋白对于颈部淋巴结转移的预测具有更大的曲线下面积和更高的敏感性和似然比。结论 铁蛋白对于头颈癌的早期诊断可能存在一定的不足,但对于预测头颈癌患者颈部淋巴结转移是一种良好的生物标志物。     

血液学指标在评估视神经脊髓炎谱系病患者疾病严重程度和治疗效果中的价值

目的 观察常见血液学指标在评估视神经脊髓炎谱系病(NMOSD)疾病严重程度和激素治疗效果中的价值.方法 纳入2015年8月至2020年4月安徽医科大学第一附属医院收治的101例初诊NMOSD患者,治疗前收集患者的一般资料及血液学指标[包括白细胞(WBC)、红细胞(RBC)、血红蛋白(HB)、血小板(PLT)、红细胞分布...