小细胞低色素性贫血儿童和孕妇的病因分析

目的:调查珠海市户籍儿童和孕妇发生小细胞低色素性贫血的原因。方法:采用已建立的技术和方法分析珠海市妇幼保健院门诊小细胞低色素性贫血儿童和孕妇病例的珠蛋白基因型和铁代谢状态及其他血液学指标。结果:271例小细胞低色素性贫血儿童和孕妇病例中,检出α-、β-地中海贫血(地贫)表型阳性和缺铁(ID)病例分别为80例、93例(其中17例合并ID)和98例。经基因分析,115例和93例分别被确定为α-地贫和β-地贫基因型(各含124和96个突变等位基因,其中包括3例β-合并α-地贫)。另外尚有3个α-地贫和2个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小细胞低色素性贫血儿童和孕妇的地贫基因检出率和携带率分别为76.75%和81.18%(未知基因型以杂合子计),α-地贫合并β-地贫的机率为1.11%;ID的发生率为42.44%,ID病例地贫基因检出率高达45.22%,地贫合并ID个体占25.00%。此外,还发现单纯性小细胞低色素症个体有更高的地贫基因检出率(85.31%)和携带率(86.01%)。结论:该研究阐明了地贫是引起珠海市户籍儿童和孕妇发生小细胞低色素性贫血特别是单纯性小细胞低色素症最主要的原因,其次为ID,地贫合并ID位居第3。同时还发现ID个体有不容忽视的地贫基因检出率。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。

Analysis on the etiology of microcytosis and hypochromia among children and pregnant women

Objective:To investigate the causes of microcytosis and hypochromia among children and pregnant women of Zhuhai household registration.Methods:271 children and pregnant women(142 children and 129 pregnant women) seen at the Outpatient Department of Zhuhai Municipal Maternal and Child Healthcare Hospital,who showed reduced mean corpuscular volume(MCV) and mean corpuscular hemoglobin(MCH) were analyzed by using established techniques that detect genotypes of globin and that analyze the iron metabolic state as well as determine other hematological parameters.Results:Of the patients studied,80 cases with α-and 93 patients with β-thalassemia phenotype as well as 98 individuals with iron-deficiency(ID) were detected.115(containing 124 alleles) and 93(counting up 96 alleles) were diagnosed as carries of α-and β-thalassemia by DNA analysis,respectively,of which 3 cases with both α-and β-thalassemia variants were also detected.In addiation,3 cases with α-and 2 cases with β-thalassemia phenotype were undetermined.So the total detectable rate and the overall incidence of thalassemia carriers were 76.75% and 81.18%(thalassemia variants undetermined as heterozygote) in the individuals investigated,respectively.Both α-and β-thalassemia accounted for 1.11%.The overall incidence of ID was 42.44%.Of individuals with ID,thalassemia mutations were detected in 52 cases(45.22%).Both thalassemia and ID were 52 cases(25.00%).This study added that there was not a low detectable rate and incidence of thalassemia carriers(85.31% and 86.01%,respectively) in the individuals 143(52.77%) with simplex microcytosis and hypochromia(reduced MCV and MCH without anemia).Conclusion:The thalassemia is the most important cause of microcytosis and hypochromia,particularly in simplex microcytosis and hypochromia in the individuals of Zhuhai household registration,followed by simplex ID and then thalassemia combined with ID.Although there is a very high prevalence of ID among these cases,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.