Zhou Xiao-Ping, Liu Teng, Pang Xue-Li, DU Hong-Fei, Xu Ying
Department of Laboratory Medicine, The First Affiliated Hospital of Chengdu Medical College, Chengdu 610500, Sichuan Province, China.
Department of Laboratory Medicine, The First Affiliated Hospital of Chengdu Medical College, Chengdu 610500, Sichuan Province, China,E-mail：
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2022 Oct;30(5):1527-1531. doi: 10.19746/j.cnki.issn.1009-2137.2022.05.034.
To investigate gene mutation types of thalassemia in the population of this area and the relationship between hematological phenotype and age in β-thalassemia.
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.
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）.
In this area, --/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.
调查该地区人群地中海贫血的基因突变类型以及β地中海贫血血液学表型与年龄的关系。
2017年6月至2021年6月在成都医学院第一附属医院检测1351例疑似地中海贫血病例。采用聚合酶链反应-反向点杂交（PCR-RDB）技术检测常见的α和β地中海贫血基因类型，然后收集确诊病例的平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）、平均红细胞血红蛋白浓度（MCHC）和血红蛋白（Hb）数据。β地中海贫血杂合子根据年龄分为0～18岁组、19～50岁组和>50岁组，比较不同组间血液学表型的差异。
在检测的1351份样本中，523例（38.71%）诊断为地中海贫血，α地中海贫血260例（19.25%）检测到13种基因型；β地中海贫血252例（18.65%）检测到12种基因型；αβ地中海贫血11例检测到9种基因型。发现0～18岁组、19～50岁组和>50岁组的MCV和MCH均显著升高，MCHC在0～18岁组最高，Hb在>50岁组最低，差异有统计学意义（P<0.05）。
该地区α地中海贫血的主要基因型为--/αα，β地中海贫血的主要基因型为CD41-42 /N和IVS-II-654/N。此外，β地中海贫血杂合子中MCV和MCH在0～18岁组最低，在>50岁组最高。年龄对地中海贫血初筛血液学参数的影响为临床诊断和治疗提供了一定的参考价值。
