Factors influencing prenatal diagnosis of deletional hemoglobin H disease in thalassemia prevention and control program, Southern China.

Abstract

The disease burden associated with deletional HbH disease and the health quality of these patients require attention in areas with high Thalassemia prevalence. We examined the associations between clinical and socioeconomic factors and prenatal diagnosis in couples at risk of having a fetus with deletional HbH (SEA/-α3.7 or SEA/-α4.2) disease in Southern China. Data collection was based on 521 medical records of at-risk couples identified between 2017 and 2022 at the largest prenatal diagnosis center in Shenzhen. Univariate analysis and multivariate logistic regression modelling were conducted. The fully adjusted model revealed an increasing trend in the prenatal diagnosis rate from 2019 to 2022, and socioeconomic inequalities that those with a college degree or higher being 1.92 (95% CI: 1.19-3.07) times more likely to undergo prenatal diagnosis compared to those with the lowest level of education, adjusted for three clinical indications, maternal age at expected delivery and study year. To address socioeconomic disparities in prenatal diagnosis for at-risk couples of deletional HbH disease and improve health outcomes, key priorities include: reducing financial barriers, standardizing genetic counseling with decision-support strategies, early identification of fetal thalassemia at birth if prenatal diagnosis is missed, and optimizing long-term management to enhance affected children's health quality.