贵港地区男女珠蛋白生成障碍性贫血基因型特点与血液学表型分析

Genetic characteristics and hematological analysis of male and female thalassemia in Guigang area

目的了解中国广西贵港地区成年男女人群珠蛋白生成障碍性贫血(原名地中海贫血,简称地贫)基因型分布及血液学表型情况。方法采用PCR-反向斑点杂交(PCR-RDB)和跨越断裂点的PCR(Gap-PCR)结合琼脂糖凝胶电泳对38625例疑似地贫的成年男女进行α、β-地贫基因检测分析。结果38625例疑似地贫的成年男女中,检出26364例地贫缺失或突变,检出率达68.25%,其中α-地贫检出16993例,占43.99%,β-地贫检出7442例,占19.27%,αβ-复合型地贫检出1929例,占4.99%。16993例α-地贫患者中,男女前4位均以--^(SEA)/αα、-α^(3.7)/αα、-α^(4.2)/αα、α^(CS)α/αα为主,7442例β-地贫患者中,男女前4位均以β^(41-42M)/β^(N)、β^(17M)/β^(N)、β^(28M)/β^(N)、β^(654M)/β^(N)为主;1929例αβ-复合型地贫患者中,男女前4位均以--^(SEA)/αα合并β^(41-42M)/β^(N)、-α3.7/αα合并β^(41-42M)/β^(N)、--^(SEA)/αα合并β^(17M)/β^(N)、--^(SEA)/αα合并β^(28M)/β^(N)为主。在男女各型地贫血红蛋白(Hb)、平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)、血红蛋白A2(HbA2)分析中,α静止型、α轻型血液学表型差异有统计学意义(P<0.05),其他类型差异无统计学意义(P>0.05)。结论贵港地区成年男女地贫基因类型具有多样性,分布有`区域性差异;α静止型、α轻型男女间的血液学表型差异明显,建议制订不同的血液学表型筛查标准,以有效提高检出率。

Objective To investigate the genotype distribution and hematological phenotype of thalassemia in adult men and women in Guigang,Guangxi,China.Methods PCR and reverse dot blot hybridization were used to analyze 38625 adult males or females suspected of thalassemia withα-,β-thalassemia genes.Results Among 38625 suspected cases of thalassemia,26364 cases of thalassemia deletion or mutation were detected,with a detection rate of 68.25%.Among them,16993 cases(43.99%)were detected forα-thalassemia,7442 cases(19.27%)were detected forβ-thalassemia,and 1929 cases(4.99%)were detected forαβ-complex thalassemia.In 16993 cases ofα-thalassemia,the top four thalassemia genes of men and women were dominated by--^(SEA)/αα,-α3.7/αα,-α^(4.2)/ααandαCSα/αα.In 7442 cases ofβ-thalassemia,the top four genes of men and women were dominated byβ^(41-42M)/β^(N),β17M/β^(N),β28M/β^(N),β654M/β^(N).In 1929 cases ofαβ-complex thalassemia,the top four thalassemia genes of men and women were dominated by--^(SEA)/ααmergeβ^(41-42M)/β^(N),-α3.7/ααmergeβ^(41-42M)/β^(N),--^(SEA)/ααmergeβ17M/β^(N),--^(SEA)/ααmergeβ28M/β^(N).In the analysis of hemoglobin(Hb),mean red blood cell volume(MCV),mean red blood cell hemoglobin content(MCH)and hemoglobin A2(HbA2)of each type of thalassemia in males and females,there were statistically significant difference inα-quiescent andα-mild hematological phenotype(P<0.05),while there was no statistically significant difference in other types(P>0.05).Conclusion The genetic types of adult male and female thalassemia in Guigang area are diverse,and the distribution is different in different regions.There are significant differences inα-quiescent andα-mild hematological phenotypes between male and female.It is suggested to develop different screening standards for hematological phenotypes to effectively improve the detection rate.