黔西南地区α-地中海贫血基因型筛查及与血液学指标的关系
Genotype screening of α-thalassemia and relationship with hematological indictors in southwestern area of Guizhou province
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摘要: 目的：探讨黔西南地区α-地中海贫血（α-地贫）基因型及与血液学指标的关系。方法：选择黔西南地区209例成人α-地贫基因携带者作为α-地贫组，按照α-珠蛋白基因型分为静止型51例、标准型92例和中间型66例；另选择同期医院体检的健康人群50名作为对照组，检测并比较各组受试对象红细胞计数（RBC）、血红蛋白（Hb）、平均红细胞压积（MCV）、平均血红蛋白含量（MCH）、平均血红蛋白浓度（MCHC）、红细胞分布宽度（RCDW）、血红蛋A2（HbA2）、血红蛋白F（HbF）等血液学指标。结果：209例α-地贫病人共检出缺失型（--或-α）182例，占87.1%，非缺失型（αTα）27例，占12.9%。α-地贫组RBC、RCDW高于对照组，Hb、MCV、MCH、MCHC、HbA2低于对照组（P<0.05）。静止型、标准型、中间型α-地贫病人Hb、MCV、MCH、MCHC、HbA2呈降低趋势，RCDW呈升高趋势，RBC呈先降低后升高趋势（P<0.05）；-α3.7/αα亚组MCHC高于-α4.2/αα亚组和αTα/αα亚组，-α4.2/αα亚组MCHC又高于αTα/αα亚组（P<0.05）。αTα/--SEA亚组MCV高于-α3.7/--SEA亚组和-α4.2/--SEA亚组，MCHC低于-α3.7/--SEA亚组和-α4.2/--SEA亚组（P<0.05）。结论：黔西南地区α-地贫基因突变主要以--SEA/αα型为主，血液学指标可以作为α-地贫筛查的指标之一。Abstract: Objective:To explore the genotype of α-thalassemia and relationship with hematological indictors in Southwestern Area of Guizhou province.Methods:A total of 209 patients with α-thalassemia in southwestern area of Guizhou province were set as the α-thalassemia group,which included silent thalassemia in 51 cases,standard thalassemia in 92 cases and intermediate thalassemia in 66 casess accorded to the a-Globin genotype.Fifty healthy people were set as the control group.The red blood cell(RBC) count,hemoglobin(Hb),mean cell volume(MCV),mean corpuscular hemoglobin(MCH) mean corpusular hemoglobin concerntration(MCHC),red cell distribution width(RCDW),hemoglobinA2(HbA2) and hemoglobin F(HbF) between two groups were compared.Results:Among 209 α-thalassemia patients,the deletion type(--or-α) in 182 cases(87.1%) and non-deletion type(αTα) in 27 cases(12.9%) were identified.The levels of RBC and RCDW in α-thalassemia group were higher than those in control group,the levels of Hb,MCV,MCH,MCHC and HbA2 in α-thalassemia group were lower than those in control group(P<0.05).Among α-thalassemia patients,the levels of Hb,MCV,MCH,MCHC and HbA2 showed a decreasing trend,the level of RCDW showed a increasing trend,the level of RBC showed the decreasing trend at first,and then increasing trend,and the difference of whcih between each group was statistically significant(P<0.05).The level of MCHC in -α3.7/αα subgroup was higher than that in -α4.2/αα subgroup and αTα/αα subgroup,the level of MCHC in -α4.2/αα subgroup was higher than that in αTα/αα subgroup,and the difference of which between each group was statistically significant(P<0.05).The level of MCV in αTα/--SEA subgroup was higher than that in -α3.7/--SEA subgroup and -α4.2/--SEA subgroup,and the level of MCHC in αTα/--SEA subgroup was lower than that in -α3.7/--SEA subgroup and -α4.2/--SEA subgroup(P<0.05).Conclusions:The--SEA/αα type is the main genotype of α-thalassemia in southwestern area,and the hematological indictors can be used as one of the indicator in screening α-thalassemia.
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Key words:
- α-thalassemia /
- genotype /
- screening /
- hematological indictor
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