Analysis of results of genotyping and screening for infertile subjects with alpha-thalassemia in Guangxi / 实用医学杂志

ABSTRACT

Objective Investigation of the carrier rate, genotyping and genotype frequency of alpha-thalassemia among infertile subjects in Guangxi, and analysis of the relationship between the results of hemoglobin electrophoresis and hematologic parameters among patients with three phenotypes of alpha-thalassemia and subjects with non-thalassemia. Methods The preliminarily patients who were diagnosed as beta-thalassemia via HbA2>3.5％ and/or HbF> 2％ were excluded. Alpha-thalassemia genes of 10 020 infertile subjects were detected in our center from 2017 to 2018, and the results of hemoglobin electrophoresis and hematologic parameters in patients with three phenotypes of alpha-thalassemia were compared. Results 624 patients with alpha-thalassemia were confirmed via gene diagnostic technique, including 19 genotypes, total carrier rate for 6.23％, 275 (2.74％) patients with silent alpha-thalassemia, 326 (3.25％) patients with alpha-thalassemia trait and 23 (0.23％) patients with HbH disease. The most common genotype was--SEA/αα, followed by-α3.7/αα and α, CSα/αα. The parameters of MCV, MCH, MCHC, Hb, HCT, HbA2 were lower, but the value of RBC were higher (both P < 0.05) , in patients with three phenotypes of alpha-thalassemia than subjects with non-thalassemia. The parameters mentioned above excluding HbA2 in patients with alpha-thalassemia showed the following regularity silent alpha-thalassemia> potential alpha-thalassemia> HbH disease. RBC value tended to increase gradually in patients with silent alpha-thalassemia, potential alpha-thalassemia and HbH disease. Conclusion Infertility with alpha-thalassemia is very popular in Guangxi, especially--SEA/αα which is the most common genotype. The value of MCV, MCH, MCHC, Hb, RBC and HCT are conducive to screening for infertile subjects with alpha-thalassemia, and have certain clinical value for differentiating three phenotypes of alpha-thalassemia.