Objective: To investigate gene mutation types of thalassemia in the population of this area and the relationship between hematological phenotype and age in β-thalassemia.
Methods: 1 351 suspected cases of thalassemia were detected in the First Affiliated Hospital of Chengdu Medical College from June 2017 to June 2021. PCR-reverse dot blot hybridization(PCR-RDB) technique was used to detect the common α and β thalassemia gene types, then the data of MCV, MCH, MCHC and Hb of confirmed cases were collected. The heterozygotes of β-thalassemia were divided into 0-18 year group, 19-50 year group and >50 year group according to age, and the differences of hematological phenotypes among different groups were compared.
Results: Among the detected 1 351 samples， 523(38.71%) cases were diagnosed as thalassemia, 13 genotypes were detected in 260 cases (19.25%) with α-thalassemia; and 12 genotypes were detected in 252 cases (18.65%) with β-thalassemia; 9 genotypes were detected in 11 cases with αβ thalassemia. It was found that MCV and MCH were increased significantly in 0-18 year group, 19-50 year group and >50 year group, MCHC was highest in 0-18 year group, and Hb was the lowest in the >50 year group, and the difference was statistically significant（P<0.05）.
Conclusion: In this area, --SEA/αα was the major genotype of α-thalassemia, and CD41-42 /N and IVS-II-654/N were the major genotypes of β-thalassemia. Morever, MCV and MCH were the lowest in the 0-18 year old group and the highest in the >50 years old group in heterozygotes of β-thalassemia. The influence of age on hematological parameters in the primary screening of thalassemia provides a certain reference value in clinical diagnosis and treatment.
题目: 地中海贫血基因检测结果及血液学表型分析.
目的: 了解本地区人群中地中海贫血基因型分布特点，分析β-地中海贫血杂合子血液学表型与年龄的关系.
方法: 选取2017年6月至2021月6月于成都医学院第一附属医院检测地贫基因疑似病例1 351例，采用PCR-反向斑点杂交法检测常见α、β地中海贫血基因类型，收集确诊病例的MCV、MCH、MCHC、Hb数据。β-地中海贫血杂合子患者按照年龄分为0-18岁组、19-50岁组、>50岁组，比较各组间血液学表型的差异.
结果: 在1 351例检测标本中，确诊地中海贫血523例（38.71%），其中13种基因型α-地贫260例（19.25%），12种基因型β-地贫252例（18.65%），9种基因型α复合β地贫11例。MCV、MCH在0-18岁组、19-50岁组、>50岁组呈明显上升趋势，MCHC在0-18岁组最高，Hb在>50岁组最低，差异均具有统计学意义（P<0.05）.
结论: 本地区α-地中海贫血以--SEA/αα基因型为主，β地中海贫血以CD41-42/N、IVS-II-654/N基因型为主，且在β-地中海贫血杂合子中，MCV、MCH在0-18岁组最低、在>50岁组最高，年龄对地中海贫血初筛中血液学参数的影响，为临床诊疗过程中提供了一定的参考价值.
Keywords: age; genotype; hematological phenotype; thalassemia.