地中海贫血血液学特点及其实验室筛查方法研究进展

Research progress in hematological characteristics and laboratory screening methods of thalassemia

地中海贫血(地贫)是一组常染色体隐性遗传病,大部分携带者没有临床症状而需要进行血液学检测才能发现。携带者之间的婚配有25%的风险孕育重型地贫患儿,故在地贫高发区进行地贫产前筛查和产前诊断是一种有效预防重型地贫患儿出生的重要举措。了解地贫的临床分型、血液学特点及筛查方法,防止地贫漏诊、误诊,以及遗传咨询尤为重要。本文就地贫的临床分型、血液学特点以及近年来其对应分型常用的筛查方法做一简单综述。

Thalassemia is a group of autosomal recessive hereditary diseases. Most carriers have no clinical symptoms and need to undergo hematological testing to find out. If both spouses are carriers of the same type of Mediterranean gene, there is a one-quarter chance of giving birth to a child with severe thalassemia. Therefore, prenatal screening and prenatal diagnosis for thalassaemia in areas with a high incidence of thalassaemia are an important measure to effectively prevent the birth of children with thalassaemia. Understanding the clinical classification, hematology characteristics and screening methods of thalassaemia is particularly important to prevent missed diagnosis, misdiagnosis and genetic counseling. This article reviews the clinical classification, hematology characteristics of thalassemia and its screening methods commonly used in recent years.