摘要
Abstract
Thalassemia(Thal)is a major hereditary birth defect disease in southern China.As a high-prevalence region for Thal,Guangxi has significantly reduced the birth rate of infants with thalassemia major through a government-led and multi-departmental prevention system integrating premarital and preconception screening,prenatal diagnosis,genetic counseling,and standardized intervention.This experience provides an important model for comprehensive Thal prevention and control.At present,the prevention and control of thalassemia ma-jor has entered a new stage focusing on long-term consolidation and quality improvement rather than rapid reduc-tion of affected births alone.Future efforts should continue to move the prevention gateway forward,refine an in-tegrated screening system covering the premarital,preconception,and early pregnancy periods,strengthen closed-loop management of screen-positive couples,improve laboratory quality control,enhance genetic counseling ca-pacity,and address regional disparities.Meanwhile,attention should be paid to comprehensive treatment for chil-dren already born with thalassemia major,including standardized blood transfusions,iron chelation therapy,he-matopoietic stem cell transplantation,and gene therapy,thereby shifting the prevention-and-control system from"preventing new cases"to a model of"preventing new cases,managing existing cases,and pursuing cure".The experience from Guangxi suggests that only the integration of public-health-oriented prevention and clinical treat-ment can sustainably consolidate the achievements in prevention and control of thalassemia major,and provide a replicable pathway for the comprehensive prevention and treatment of birth defects in China.关键词
地中海贫血/出生缺陷/婚前筛查/产前诊断/造血干细胞移植/防控Key words
thalassemia/birth defects/premarital screening/prenatal diagnosis/hematopoietic stem cell trans-plantation/prevention and control分类
医药卫生
