【摘要】 目的：分析γ珠蛋白基因^Aγ-225～-222AGCA缺失突变复合重型β 地中海贫血的临床特征。方法：收集2020年7月至2022 年 1 月在广西医科大学第一附属医院门诊诊断为地中海贫血患者 300 例，采用血细胞分析仪进行血常规检测，高效液相色谱法（HPLC）测定胎儿血红蛋白（Hb F）和血红蛋白A₂（Hb A₂）;DNA测序方法分析γ珠蛋白基因突变；采用荧光PCR熔解曲线法和Gap-PCR法检测地中海贫血基因突变。结果：在300例Hb F升高的病例中，共检出16例^Aγ-225～-222缺失突变复合重型 β 地中海贫血，其中 7 例轻度贫血，Hb 为 90～111.9 g/L、MCV 65.9～80.31 fL、MCH 20.22～28.06 pg；中度贫血 7 例，Hb60.7～87 g/L、MCV 62.9～86.24 fL、MCH 19.4～27.21 pg；重度贫血 2 例，其中 1 例 Hb 47.3 g/L、MCV 77.31 f L、MCH 24.8 pg，另1 例 Hb 55.5 g/L 、MCV 75.26 f L、MCH 24.49 pg。Hb 分析 16 例的 Hb F 为 8.6%～85.6%,Hb A₂为2.6%～9.3%。基因型分析显示，16例^Aγ-225～-222 AGCA缺失突变。16例β地中海贫血基因突变类型为β^CD41-42/β^-287 例、β^CD17/β^-283 例、β^-28/β^-282 例、β^IVS-I-1/β^-281 例、β^CD71-72/β^-281 例、β^CD41-42/β^CD171 例和 β^IVS-II-654/β^-281 例。结论：^Aγ-225～-222AGCA缺失突变复合重型β 地中海贫血的病例大部分表现为轻度至中度贫血，该缺失突变可使重型β 地中海贫血患者的贫血程度得到改善。更多还原

【Abstract】 Objective: To analyze the clinical characteristics of γ globin gene^Aγ-225-222 AGCA deletion mutation combined with severe β- thalassemia. Methods: A total of 300 patients with thalassemia diagnosed in The First Affiliated Hospital of Guangxi Medical University from July 2020 to January 2022 were collected. Blood routine tests were performed by hematology analyzer, fetal hemoglobin （Hb F） and hemoglobin A₂（Hb A₂） were determined by high performance liquid chromatography （HPLC）. DNA sequencing was used to analyze the mutation of γ globin gene; and fluorescent PCR melting curve and Gap-PCR method were used to detect the gene mutation of thalassemia. Results: Among the patients with elevated Hb F, there were 16 cases of^Aγ-225-222 deficiency mutation combined with severe β thalassemia, including 7 cases of mild anemia, with Hb of 90- 111.9 g/L MCV65.9-80.31 fL, MCH 20.22-28.06 pg; 7 cases of moderate anemia with Hb 60.7-87 g/L, MCV 62.9-86.24 fL, MCH 19.4- 27.21 pg; 2 cases of severe anemi with 1 case of Hb 47.3 g/L, MCV 77.31 fL, MCH24.8 pg, and 1 case of Hb 55.5 g/L, MCV 75.26 fL MCH 24.49 pg. The Hb F of 16 cases analyzed by Hb was 8.6%-85.6%, and 2.6%-9.3% for HB A₂. Ge notypic analysis showed that there was a deletion mutation of AGCA in 16 patients with A-225 mutations. Geno typic analysis showed that 16^Aγ-225-222 deficiency mutation cases. 16 cases β thalassemia gene mutation includ ed 7 β^CD41-42/β^-28, 3 β^CD17/β^-28, 2 β^-28/β^-28, 1 β^IVS-I-1/β^-28, 1β^CD71-72/β^-28, 1 β^CD41-42/β^CD17, and 1 β^IVS-II-654/β^-28. Conclusion: Mos of the cases of^Aγ-225-222AGCA deletion mutation combined with severe β thalassemia show mild to moderat anemia, and the deletion mutation can improve the degree of anemia in patients with severe β thalassemia.更多还原