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目的对非缺失型α珠蛋白生成障碍性贫血(简称地贫)杂合子及纯合子的基因型和表型进行分析,并与缺失型α地贫作比较。方法对检测标本采用血常规、血红蛋白电泳、Multi-PCR法检测--SEA、-α3.7、-α4.2,PCR-反向斑点杂交法检测αCS、αQS、αWS。将非缺失型α地贫杂合子设为A组,α地贫2(-α3.7或-α4.2杂合子)设为B组,α地贫1(--SEA杂合子)设为C组,将3组平均红细胞容积(MCV)、平均红细胞血红蛋白(MCH)水平进行统计学分析。结果确诊的28例非缺失型α地贫中,24例为杂合子,临床表现为静止型-轻型,3例为αCSα/αQSα,1例为αCSα/αWSα,临床表现为轻型-中间型;B组、C组分别为53例和51例。共检出32条非缺失型α地贫的等位基因,其中αCS15条,αQS15条,αWS2条。3组MCV比较:A组与B组t=4.700 8,P=0.000 0;A组与C组t=8.333 2,P=0.000 0;B组与C组,t=16.189 7,P=0.000 0。3组MCH比较:A组与B组t=3.810 2,P=0.000 3;A组与C组t=7.610 2,P=0.000 0;B组与C组,t=15.759 2,P=0.000 0。结论αCS、αQS、αWS是桂林地区常见的非缺失型α地贫基因突变类型,其表型较α地贫2明显,在临床诊断和遗传咨询中应加以重视。
Objective To analyze the genotype and phenotype of heterozygous heterozygotes and homozygotes of non-deletion alpha-globin aplastic anemia (abbreviated as thalassemia) and to compare them with deletional alpha-thalassemia. Methods The blood samples, hemoglobin electrophoresis and Multi-PCR assay were used to detect αCS, αQS and αWS by ELISA, -A3.7, -α4.2 and PCR-reverse dot blot hybridization. A non-deletion α thalassemia heterozygote was set as group A, α thalassemia 2 (-α3.7 or -α4.2 heterozygote) was set as group B, and α thalassemia 1 (-SEA heterozygote) was designated as C Group, the three groups of average red blood cell volume (MCV), mean erythrocyte hemoglobin (MCH) levels were statistically analyzed. Results Of the 28 non-deletional α-thalassemia patients, 24 were heterozygous. The clinical manifestations were static-light type, 3 cases of αCSα / αQSα, 1 case of αCSα / αWSα, clinical manifestations of light-middle type; B Group, group C were 53 cases and 51 cases. A total of 32 non-deletional alpha thalassemia alleles were detected, including 15 αCSS, 15 αSS and 2 αWS. The MCV of three groups were compared: t = 4.700 8 in group A and group B, P = 0.000 0; t = 8.333 2 in group A and group C, P = 0.000 0; t = 16.189 7 in group B and group C, .3 Comparison of MCH: t = 3.810 2 in group A and group B, P = 0.000 3; t = 7.610 2 in group A and group C, P = 0.000 0; t = 15.759 2 in group B and group C, P = 0.000 0. Conclusions αCS, αQS and αWS are common non-deletional α-thalassemia mutations in Guilin. The phenotypes of αCS, αQS and αWS are more obvious than α-thalassemia 2, and should be taken seriously in clinical diagnosis and genetic counseling.