怀化市新生儿地中海贫血基因特征分析

Genetic characteristics of newborn thalassemia in Huaihua

目的了解怀化市2020—2022年新生儿地中海贫血基因分型。方法对2020年1月至2022年12月怀化市进行地中海贫血筛查的46931名新生儿进行回顾性分析。结果初筛阳性4443例,召回2153例,地中海贫血基因确诊1536例。基因确诊α地中海贫血1077例(70.12%),β地中海贫血431例(28.06%),中间型α地中海贫血4例;临床表型以静止型α地中海贫血、轻型α地中海贫血和轻型β地中海贫血为主。结论怀化市新生儿地中海贫血以α地中海贫血为主,其中又以静止型、轻型多见。怀化市新生儿地中海贫血基因携带率高于全国平均水平,地区分布不均,地中海贫血防治工作形势较严峻。

Objective To understand the genotypes of neonatal thalassemia in Huaihua City from 2020 to 2022.Methods A retrospective analysis was performed on 46931 newborns screened for thalassemia from January 2020 to December 2022 in Huaihua City.Results 4443 cases were positive in preliminary screening,2153 cases were recalled,and 1536 cases were confirmed with thalassemia gene.There were 1077 cases(70.12%)ofα-thalassemia diagnosed by gene.431(28.06%)cases ofβ-thalassemia;Intermediateα-thalassemia(4 cases);The clinical phenotypes were mainly staticα-thalassemia,mildα-thalassemia and mildβ-thalassemia.Conclusion The neonatal thalassemi in huaihua city is mainlyα-thalassemia,and the rest type and mild type are more common.The gene carrying rate of newborn thalassemia in Huaihua City is higher than the national average level,the regional distribution is uneven,and the situation of thalassemia prevention and control is serious.