广西医科大学学报2026，Vol.43Issue(4)：475-479,5.DOI:10.16190/j.cnki.45-1211/r.2026.04.003
1例罕见β-珠蛋白基因IVSⅠ-2(T＞A)突变所致β-地中海贫血病例分析
Rare IVSⅠ-2(T＞A)mutation in the β-globin gene causing β-thalassemia:a case report
摘要
Abstract
Objective:To investigate the hematological parameters and clinical phenotypes of a heterozygote car-rying the rare IVSⅠ-2(T＞A)mutation in the β-globin gene.Methods:Patients suspected of having β-thalasse-mia who underwent initial screening via routine blood tests[red blood cell count(RBC),hemoglobin(Hb),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC),hematocrit(HCT),red blood cell distribution width(RDW)],and analyses of hemoglobin A2(Hb A2)and fetal hemoglobin(Hb F)were enrolled in this study.Common β-thalassemia gene mutations were detected using fluorescent polymerase chain reaction(PCR)melting curve analysis.For individuals in whom no mutations were identified by the above methods,DNA sequencing was further performed to detect rare or unknown β-thalas-semia gene mutations.Results:Among 235 patients with β-thalassemia,1 patient with rare β-thalassemia was identified.The patient harbored a heterozygous IVS Ⅰ-2(T＞A)(HBB:c.92+2 T＞A)mutation in the β-globin gene coexisting with α-thalassemia of the αα/-α3.7 deletion type.The patient's routine blood test results were as fol-lows:RBC 5.89×1012/L,Hb 107.00 g/L,MCV 55.40 fL,MCH 18.15 pg,MCHC 327.70 g/L,HCT 0.327 and RDW 0.18.The hemoglobin analysis results of the patient revealed an Hb A2 level of 5.0%and an Hb F level of 4.0%.Conclusion:β-Thalassemia caused by the rare heterozygous IVS Ⅰ-2(T＞A)mutation in the β-globin gene is reported for the first time in China.Clinically,the patient presents with mild anemia,decreased MCV and MCH levels,and elevated Hb A2.This mutation is relatively rare and prone to missed diagnosis.关键词
β-地中海贫血/IVSⅠ-2(T＞A)/罕见突变/内含子/β-珠蛋白基因/前体mRNA/基因突变Key words
β-thalassemia/IVS Ⅰ-2(T＞A)/rare mutation/intron/β-globin gene/precursor messenger RNA/gene mutation分类
医药卫生引用本文复制引用
岑小慧,李汶蔚,朱恒莹,肖璇,陈萍..1例罕见β-珠蛋白基因IVSⅠ-2(T＞A)突变所致β-地中海贫血病例分析[J].广西医科大学学报,2026,43(4):475-479,5.基金项目
国家自然科学基金资助项目(81960574) （81960574）
广西科技重大专项基金资助项目(桂科AA24206002) （桂科AA24206002）
