关键词: 地中海贫血, 筛查, 基因诊断

Abstract: Objective To explore the types and frequency of gene mutations in children with thalassemia in Luzhou,Sichuan Province. Methods A biochemical screening for thalassemia was performed by laboratory examination RBC osmotic fragibity,serum ferritin and hemoglobin electrophoresis on 556 children with anemia from Luzhou,Sichuan Province.Genetic diagnosis was performed on the children with α-thalassemia by gap-PCR and on the children with β-thalassemia by PCR-Reverse Dot Blot(PCR-RDB). Results The positive cases of the biochemical screening for thalassemia were 176(31.65%).The positive of genetic diagnosis was 136(24.46%).Of the 136 cases,α-thalassemia was found in 53 cases,β-thalassemia in 81 cases and α-combined β-thalassemia in 2 cases.7 types of mutation genotypes were detected in 53 cases of α-thalassemia ,the proportions of--α^SEA/ααwere 39.62%,the proportions of -α^3.7/αα were 26.42%.7 different mutalion were identified in 81 cases of β-thalassemia,there were 14 different gene types.CD17(A→T)、IVS-Ⅱ-654(C→T) and CD41/42(-TTCT) were the most frequent genic mutations. Conlusions The frequency of gene mutations for thalassemia is high in children from Luzhou,Sichuan province.Gene diagnosis is a accurate and reliable method to diagnose thalassemia.

Key words: thalassemia, biochemical screening, gene diagnosis