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【目的】了解广西横县地中海贫血发生率,筛查携带者及探讨有效预防重症地中海贫血患儿出生措施。【方法】采用新生儿脐带血进行HbBart’s含量测定,筛查α地贫;满周岁后再进行HbA2测定,筛查β地贫。【结果】1990-1992年,对横县1 108例新生儿筛查,α地贫发生率15.16%(α2 5.14%,α1 8.57%,HbH病0.36%,HbBart’s水肿儿1.08%)。满周岁后再筛查,β地贫发生率5.18%(轻型4.42%,重型0.15%,β复合α0.61%)其他异常Hb 0.61%,这些基线数值提示横县为地中海贫血高发病区。1991-2010年对全部住院分娩新生儿进行α地贫检测,共筛查30 834例,还扩展到婚前(孕前)检查对象,将可能生育重度地贫患儿的早孕妇女,转介到有资质的省级医院进行产前诊断,使得重度α地贫水肿胎儿发生率从基线调查资料的1.08%,下降到2010年的0.07%,重型β发生率从基线调查资料的0.15%下降到2010年的0.07%。【结论】脐带血HbBart’s含量测定筛查α地贫,并在1岁时联合使用HbA2测定筛查β地贫,配合婚前(孕前)检查筛查β地贫并转介高风险孕妇做产前诊断,方法简单实用易推广,可有效防控中、重症地贫患儿出生。
【Objective】 To understand the prevalence of thalassemia in Hengxian County of Guangxi and to screen for carriers and explore the effective measures to prevent the birth of children with severe thalassemia. 【Method】 HbBart’s content was determined by neonatal umbilical cord blood to screen for thalassemia thalassemia. HbA2 assay was performed after the age of one year old to screen for beta thalassemia. 【Results】 From 1990 to 1992, 1 108 neonates were screened in Hengxian County. The incidence of α-thalassemia was 15.16% (α2 5.14%, α1 8.57%, HbH disease 0.36%, HbBart’s edema 1.08%). After the age of screening, the incidence of β thalassemia was 5.18% (light 4.42%, heavy 0.15%, β-composite α 0.61%) and other abnormal Hb 0.61%. These baseline values suggest that Heng County is a high incidence of thalassemia. In 1991-2010, a total of 30 834 newborns were examined for neonatal confinement and extended to prenuptial (pre-pregnancy) subjects who were probable to have early-pregnant women who may have severe thalassemia. Of the provincial hospitals for prenatal diagnosis, making the incidence of severe α-thalassemia fetus decreased from 1.08% of baseline survey data to 0.07% in 2010, and the incidence of severe β decreased from 0.15% of baseline survey data to 2010 0.07%. 【Conclusion】 HbBart’s content in umbilical cord blood can be used to screen α-thalassemia, and β-thalassemia can be screened at the age of 1 year with HbA2 assay. Prenuptial screening can be used to screen for β -thalassemia and refer to high-risk pregnant women for prenatal diagnosis The method is simple, practical and easy to popularize, which can effectively prevent and treat the birth of middle and severe thalamic children.