摘要
目的:调查珠海市户籍人群小细胞低色素性贫血个体中地中海贫血(简称地贫)的发生率、基因突变类型及其分布特征。方法:采用已建立的技术和方法分析珠海市户籍人群小细胞低色素性贫血门诊患者的珠蛋白基因型和其他血液学指标。结果:在所研究的372例病例中(其中儿童和孕妇各为89和61例),检出α-、β-地贫表型阳性和缺铁(ID)病例各154、146和72例(其中儿童和孕妇病例各为40例和26例)。经基因分析,有191和144例分别被确定了α-和β-地贫基因型(各含201和147个突变等位基因,其中有5例β合并α-地贫)。另外尚有5个和2个分别为α-和β-地贫表型阳性的病例未能确定其基因型。据此得出珠海市户籍人群小细胞低色素性贫血病例地贫基因检出率和携带率分别为91.94%和95.43%(未知基因型以杂合子计),α-合并β-地贫的机率为1.34%;ID的发生率为23.92%,儿童和孕妇ID的发生率各为44.94%和42.62%。ID病例地贫基因检出率高达60.67%。地贫合并ID个体占16.02%。此外,还发现单纯性小细胞低色素症(平均红细胞容积和平均红细胞血红蛋白量均降低,但不贫血)的个体有更高的地贫基因检出率(96.89%)和携带率(97.78%)。结论:珠海市户籍人群小细胞低色素性贫血特别是单纯性小细胞低色素症病例有很高的地贫基因携带率。虽然ID在该市儿童和孕妇个体中很常见,但此类个体也有不低的地贫基因检出率。由于小细胞低色素性贫血通常被认为是ID的指征,故该研究所得出的结论具有很强的临床针对性和重要的优生优育学意义。
Objective：To investigate the prevalence, spectrum, genotype and distribution of thalassemia among individuals of Zhuhai household registration with microcytic hypochromic anemia. Method： 372 outpatients of Zhuhal household registration including 89 children and 61 pregnant women seen at Zhuhai Municipal Maternal and Child Healthcare Hospital, who showed reduced low corpuscular volume （MCH） and mean corpuscular hemoglobin （MCH） were analyzed by established techniques to detect genotypes of globin and to determine other hematological index. Result： Of the patients studied, 154 cases with α-thalassemia and 146 patients with β- thalassemia phenotype as well as 72 individuals including 40 children and 26 pregnant women with iron-deficiency （ID） were detected. 191 （containing 201 alleles） and 144 （containing 147 alleles） patients were diagnosed as carriers of α- thalassemia and β-thalassemia by DNA analysis, respectively, in which 5 cases with both α-thalassemia and β- thalassemia variants were also detected. In addition, 5 cases with α-thalassemia and 2 patients with β-thalassemia genotype remains undetermined. So the total detectable rate and the overall incidence of thalassemia carriers were 91. 94% and 95.43% （thalassemia variants undetermined as heterozygotes）in the individuals investigated, respectively. Both α-and β-thalassemia accounted for 1.34 %. The overall incidence of ID was 23.92%, there was a high prevalence of ID in the children （44. 94%） and in the pregnant women （42.62%）. Of individuals with ID, thalassemia mutations were detected in 54（60.67%） patients. Both thalassemia and ID was 16. 02% （54/337）. This study show that there were a higher detectable rate and incidence of thalassemia carriers （96.89 % and 97.78%, respectively） in the 225（60.48% ） individuals with simplex microcytosis and hypochromia（reduced MCV and MCH without anemia）. Conclusion：There is very high prevalence of thalassemia among individuals of Zhuhai household registration with microcytosis and hypochromic anemia. Although ID is very common in children and pregnant women, the incidence of thalassemia carriers is not low among them. These data are of tenacious clinical relevance and of very important eugenic significance since these hematological alterations are often interpreted as indicators of ID.
出处
《临床血液学杂志》
CAS
2006年第6期330-333,共4页
Journal of Clinical Hematology
基金
广东省自然科学基金(NO:04101691)
广东省医学科研基金(NO:A2003737)
珠海市科技计划项目(NO:PC200310072)
