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.