桂林市小细胞低色素红细胞症人群病因分析

Etiology Analysis of Microcytosis and Hypochromia Group in Guilin City

目的调查桂林市患小细胞低色素红细胞症人群的病因。方法对桂林市634例经末梢血血细胞检查确定为小细胞低色素的人群采用电发光法检测其血清铁蛋白,全自动电泳仪进行其血红蛋白电泳,采用多重PCR法同时检测其--SEA、-α3.7、-α4.23种α珠蛋白生成障碍性贫血(地贫)基因缺失,采用PCR-反向斑点杂交法检测17种β地贫基因突变和HbCS/QS/WSα地贫点基因,采用直接测序法测定仍不能确诊的基因型。结果634例小细胞低色素红细胞症受检者中,分别检出各型α地贫271例(并铁缺乏8例),β地贫281例(并铁缺乏17例),铁缺乏56例,α地贫复合β地贫15例,HbE杂合子4例,-α4.2/αα复合高HbF(HbF分别为14.4%和31.4%)2例,单纯高HbF症2例,病因不明3例。地贫(包括各型α地贫、β地贫、αβ地贫、HbE、高HbF症)检出率为90.69%,铁缺乏检出率为12.78%,病因不明占0.05%。结论桂林市小细胞低色素红细胞症患者病因以地贫为主,在临床诊断、遗传咨询中应重视基因诊断,以避免漏诊和误诊。

Objective To investigate the etiology of microcytosis and hypochromia group in Guihn city. Methods After confirmed as microcytosis and hypochromia by blood smears ,634 individuals were taken the tests including serum ferritin by immunofluorescence method, hemoglobin electrophcresis,3 types （ --^SEA, -α^3.7 , - α^4.2） of α hemoglobin gene deletions by multi -polymoreise chain reaction （PCR）, 17 kinds point mutations of β hemoglobin gene and 3 kinds of point mutations of α hemoglobin gene by reverse dot blot. Results Among 634 individuals,271 cases with α thalassemia （8 cases of them combined with iron deficency）, 281 cases with β thalassemia （17 cases of them combined with iron deficency） ,56 cases with iron deficeny, 15 cases with α thalassemia combined with β thalassemia ,4 cases with HbE heterozygotes ,2 cases with - α^4.2/αα combined with high HbF,2 cases with high HbF. However, the etiology of 3 cases remain unknow. The incidence of thalassemia, including α thalassemia and β thalassemia and αβ thalassemia and HbE heterozygotes and high HbF was 90.69%. The incidence of iron defieency, including the cases combined with thalassemia was 12.78%. The ineidency of unknow etiology was 0.05%. Conclusions The major etiology of microcytosis and hypochromia group in Guilin city lies in thalassemia. The molecular skills should be paid importance to avoid missed diagnosis and misdiagnosi in clinic.