探讨广州市花都区育龄人群β-地中海贫血的基因携带率、突变类型及分布情况，并筛查出夫妇双方同时携带β-地中海贫血基因型的高风险家庭。

选择2018年1月至12月，在广州市花都区妇幼保健院参加免费优生健康检查的育龄人口共计6 494对(共12 988例)，收集经地中海贫血初筛[平均红细胞体积(MCV)↓和(或)平均红细胞血红蛋白含量(MCH)↓]检查为阳性的乙二胺四乙酸(EDTA)-K2抗凝全血标本2 240对(共4 480例)，采用聚合酶链反应(PCR)＋导流杂交法检测β-地中海贫血基因17个常见位点的突变类型，对于未知突变型基因则采用直接测序法进行β-珠蛋白测序，并对检测结果进行统计分析。如果夫妻双方同时携带β-地中海贫血基因，则归属于高风险人群。

6 494对(共12 988例)受检者中，共检测出504例带有β-地中海贫血基因突变，检出率为3.88%。共检出12种常见β-地中海贫血基因型，构成比最高的3种基因型依次是βCD41-42(208/504，41.27%)、βIVS-II-654(143/504，28.37%)、β-28(66/504，13.09%)；检出2种少见缺失型，分别为SEA-HPFH、^Gγ^＋(^Aγδβ)⁰；检出β复合α地中海贫血基因突变者79例，检出率为0.61%(79/12 988)。检测到β-地中海贫血高风险家庭17户。

广州市花都区属于β-地中海贫血高发区，且基因型复杂多样，主要以βCD41-42为主，同时应注意罕见型β-地中海贫血基因的检测。

To explore the gene carrying rate, mutation type and distributional characteristics of β-thalassemia among couples of reproductive age in Huadu district of Guangzhou. High-risk family with β-thalassemia genotypes were also screened for both couples.

A total of 6 494 pairs (12 988 cases) of the population of reproductive age who participated in the free eugenics health examination in Huadu District Maternal and Child Health Hospital of Guangzhou City were selected from January to December 2018. 4 480 blood samples with EDTA-K2 anticoagulation which specimen from 12 988 cases with thalassemia screening with positive result were positive by preliminary screening for thalassemia (by MCV, MCH), 504 cases samples were with gene mutation of β-thalassemia. The people were detected the 17 common mutation genotypes of β-thalassemia genes by PCR and flow-through hybridization technology. The β-globin gene of unknown samples were analyzed with DNA sequencing. The detection results were analyzed by statistical methods. If both husband and wife are carrying β-thalassemia genes at the same time, they belong to a high-risk population.

Five hundred and four cases were diagnosed as β-thalassemia, with the detection rate of 3.88%. In cases with β-thalassemia, the major genotypes were βCD41-42(208/504, 41.27%), βIVS-Ⅱ-654(143/504, 28.37%), β-28(66/504, 13.09%) respectively. 2 rare genotypes were detected, namely SEA-HPFH and ^Gγ⁺ (^Aγδβ)⁰.Seventy-nine cases were β and α compound thalassemia, and the detection rate was 0.61%(79/12 988). Seventeen couples were the β-thalassemia high-risk population.

Guangzhou Huadu district belongs to the area of β-thalassemia, and the genotype is complex and diverse, mainly βCD41-42. We should take attention to the high incidence detection of rare β-thalassemia genes.