中文摘要：

目的分析健康正常人、骨髓增生异常综合征（MDS）和再生障碍性贫血（AA）患者HFE基因突变的频率并探讨其与铁代谢和铁过载脏器功能受损相关指标的关系。方法采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）联合测序分析的方法检测271例MDS患者、402例AA患者和1615名健康正常对照的HFE基因H63D和C282Y突变，并比较未输注红细胞的MDS和AA患者HFE基因突变组与未突变组的铁代谢指标和铁过载脏器功能受损相关指标。结果271例MDS患者、402例AA患者及1615名正常对照中均未发现HFE基因C282Y突变及C282Y和H63D复合突变。MDS患者H63D突变率为4．1％（271例中11例），且均为杂合型。AA患者H63D杂合型突变率为9．7％（402例中39例），纯合型突变率0．25％（402例中1例）。正常对照H63D杂合型突变率为10．2％（164例），纯合型突变率0．24％（4例）。MDS患者H63D突变率明显低于正常对照（P=0．002），而AA患者与正常对照比较差异无统计学意义（P=0．988）。未输注红细胞的MDS及AA患者的血清铁蛋白（SF）值、血清铁（SI）值、铁饱和度（TS）值均接近或高于正常高限，血清未饱和铁（UIBC）值明显低于正常。未输注红细胞的MDS患者H63D突变组与未突变组的SF、SI、UIBC、总铁结合力（TIBC）、TS值差异无统计学意义（P值均〉0．05）；未输注红细胞的AA患者H63D突变组的SI值明显高于未突变组[42．6（24．6～60．4）μmol／L和32．0（8．4—63．3）μmol／L（P=0．011）]，而两组的其他铁代谢参数差异均无统计学意义（P值均〉0．05）。MDS及AA患者或就诊前未输注红细胞的MDS及AA患者H63D突变组与未突变组的肝酶值、空腹血糖（FBS）值、心电图（ECG）异常率、外周血指标差异均无统计学意义（P值均〉0．05）。结论HFE基因H63D和C282Y突变在人群的分布有种族和遗传的差异，中国人HFE基因的突?

英文摘要：

Objective To detect the incidence of the HFE gene C282Y and H63D mutations in patients with myelodysplastic syndromes （MDS） and aplastic anemia （AA）, and analyze the relationship of these mutations with iron metabolism, and organs impairment from iron overload. Methods The incidence of the C282Y and H63D mutations in 271 MDS, 402 AA patients and 1615 normal subjects was measured by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） combining with DNA sequencing. Iron metabolism parameters and iron overload indices were retrospectively compared between HFE gene mutation and unmutation groups in MDS and AA patients with no transfusion history. Results No C282Y and C282Y/H63D compound mutation was detected in all the three groups. The incidence of H63D heterozygous and homozygous genotype did not significantly differ between AA cases and controls （ 9.7% vs 10.2% , 0.25% vs 0. 24% respectively, both P 〉 0.05）. The frequency of H63D heterozygous genotype in MDS patients was significantly lower than that in controls （4. 1%vs 10.2% , P =0. 002）. H63D homozygous was not found in MDS patients. In both MDS and AA patients with no RBC transfusion histony, serum ferritin （SF）, transferrin saturation value（ TS）, serum iron concentration（SI） were close to or higher than normal; and unsaturated iron-binding capacity （UIBC） value was significantly lower. There was no significant difference in SF, SI, TS values between HFE-mutation and -unmutation MDS patients. For AA patients, only the level of SI was significantly higher in HFE-mutant group than in -unmutation group [ 42.6 （ 24.6 - 60.4 ） μmol/L vs 32.0 （ 8.4 - 63.3 ） μmol/L, P = 0.0111. There was no significant difference in the values of liver enzyme, fasting blood sugar （FBS）, abnormal electrocardiogram （ECG）, peripheral blood indices between HFE-mutation and -unmutation MDS and AA groups （ all P 〉 0.05）. Conclusion The distribution of C282Y and H63D mutations has ethnic and genetic disp