福建省石狮地区 17 484 例育龄夫妇 地中海贫血基因检测结果分析

Analysis of Thalassemia Gene Detection Results in 17 484 Cases Couples of Childbearing Age in Shishi Area of Fujian Province

摘要:

〔摘 要〕 目的：调查福建省石狮地区育龄夫妇地中海贫血基因携带率及基因突变类型，初步明确该地区的地中海贫血 流行情况，为优生优育提供参考和指导。 方法：收集 2017 年 7 月至 2022 年 12 月福建省石狮地区 17 484 例育龄夫妇的血 样进行检测；夫妇双方均进行血细胞分析，只要有一方平均红细胞体积（MCV）＜ 80 fL 或（和）平均红细胞血红蛋白含 量（MCH）＜ 27 pg，即可判断为初筛阳性；夫妇双方均进行血红蛋白（Hb）电泳检测，夫妇双方 Hb 电泳结果均为阳性 时（HbA2 ≤ 2.5 % 或 HbA2 ≥ 3.5 % 或出现其他异常 Hb 带），采用跨越断裂点聚合酶链式反应（Gap–PCR）及反向斑点 杂交（RDB）技术对夫妇双方进行地中海贫血基因检测。 结果：17 484 例育龄夫妇中，初筛阳性的共有 2402 例，初筛阳 性率为 13.74 %；夫妇双方 Hb 电泳均为阳性的共有 436 例，基因检测后有 125 例确诊为地中海贫血，确诊率为 28.67 %； 检出 α– 地中海贫血 86 例，检出率 68.80 %；检出 β– 地中海贫血 37 例，检出率 29.60 %；检出 αβ– 复合地中海贫血 2 例， 检出率为 1.6 0 %；检出 α– 地中海贫血同型携带的高风险夫妇 12 例（6 对），检出率为 2.75 %。 结论：石狮地区育龄夫 妇地中海贫血的分布以 α– 地中海贫血为主，基因突变类型以 --^SEA/αα 为主；β– 地中海贫血基因突变类型以 CD41–42/N 和 IVS–Ⅱ–654/N 为主；夫妇同型携带高风险主要存在于 α– 地中海贫血中；需继续开展做好地中海贫血基因检测工作，进一步 跟踪分析地中海贫血流行情况，有效预防地中海贫血的发生，减少出生缺陷。

Abstract:

〔Abstract〕 Objective To investigate and analyze the gene carrying rate and gene mutation types of thalassemia in couples of childbearing age in Shishi Area of Fujian Province, and to identify the epidemic situation in this area, so as to provide reference and guidance for eugenics. Methods The blood samples of 17 484 cases couples of childbearing age in Shishi Area of Fujian Province were collected for detection from July 2017 to December 2022. Both spouses underwent blood cell analysis, If the mean corpuscular volume (MCV) was < 80 fL and/or the mean corpuscular hemoglobin (MCH) was < 27 pg of one party of the couple, it was judged as positive in the preliminary screening; both spouses underwent hemoglobin (Hb) electrophoresis detection, if both spouses were positive (HbA2 ≤ 2.5 % or HbA2 ≥ 3.5 % or had other abnormal Hb bands), the gap–polymerase chain reaction (Gap–PCR) and reverse dot blot (RDB) technology were used to detect the thalassemia gene for both spouses. Results Among 17 484 cases couples of childbearing age, 2402 cases couples had abnormal blood routine examination in at least one side, and the positive rate of primary screening was 13.74 %; there were 436 cases who represented Hb abnormal electrophoresis, a total of 125 cases were diagnosed as thalassemia after genetic testing, with a diagnostic rate of 28.67 %; 86 cases of α-thalassemia were detected, with a detection rate of 68.80 %; 37 cases of β-thalassemia were detected, with a detection rate of 29.60 %; 2 cases of αβ-complex thalassemia were detected, with a detection rate of 1.60 %; and 12 cases (6 pairs) of high-risk couples with homologous thalassemia were detected, with a detection rate of 2.75 %. Conclusion The distribution of thalassemia in couples of childbearing in Shishi Area was mainly α-thalassemia, and the genetypes were mainly --^SEA/αα; the genetypes of β-thalassemia were mainly CD41-42/N、IVS-Ⅱ-654/N; The high risk of homotypic carrier in couples mainly exists in α-thalassemia; It is necessary to continue to do a good job in the genetic detection of thalassemia, further track and analyze the prevalence of thalassemia, effectively prevent the occurrence of thalassemia, and reduce birth defects.