广东省惠州市地区3种常见缺失型β-地中海贫血及其合并α-地中海贫血患者的血液学特征分析  

Analysis of hematological characteristics of patients with three common deletionalβ-thalassemias and concomitantα-thalassemia in Huizhou,Guangdong province

作　　者：官志扬 陈迪娜 钟泽艳 吴志勇 钟国兴 黄少慧 陈剑虹 Guan Zhiyang;Chen Dina;Zhong Zeyan;Wu Zhiyong;Zhong Guoxing;Huang Shaohui;Chen Jianhong(Department of Medical Genetics and Prenatal Diagnosis,Huizhou First Maternal and Child Health Care Hospital,Huizhou,Guangdong 516007,China)

机构地区：[1]惠州市第一妇幼保健院医学遗传与产前诊断科,惠州516007

出　　处：《中华医学遗传学杂志》2025年第2期129-136,共8页Chinese Journal of Medical Genetics

基　　金：广东省医学科研基金(A2024278);惠州市科技计划(医疗卫生)项目(2023CZ010108);惠州市科技计划(医疗卫生)项目(2024CZ010137);惠州市第一妇幼保健院院内课题(YN2024003)。

摘　　要：目的分析广东省惠州市地区3种常见缺失型β-地中海贫血(简称"地贫")及其合并α-地贫患者的血液学特征。方法选择2014年6月至2023年12月在惠州市第一妇幼保健院进行血红蛋白电泳检测,血红蛋白F(Hb F)≥5%的1335例育龄患者作为研究对象。使用血细胞分析仪和全自动毛细管电泳仪检测患者的血液学指标,采用液相芯片和缺口PCR分别检测患者常规地贫基因和3种常见缺失型β-地贫基因,分析缺失型β-地贫患者的血液学特征。本研究已获得惠州市第一妇幼保健院医学伦理委员会的审查[批准号:20231107(B2)]。结果①共检出384例常见的3种缺失型β-地贫患者,包括184例中国型Gγ+(Aγδβ)0、191例东南亚型遗传性持续性胎儿血红蛋白增高症(SEA-HPFH)和9例台湾型,总检出率为28.76%。②排除不符合标准的患者后余372例缺失型β-地贫患者,均表现为小细胞低色素性贫血,Hb F明显升高;除中国型Gγ+(Aγδβ)0患者的血红蛋白A2(Hb A2)正常或降低之外,其它2种患者的Hb A2均有不同程度的升高;差异性比较结果显示各组间的Hb A2和Hb F差异均有统计学意义(P<0.05)。③按基因变异类型将180例中国型Gγ+(Aγδβ)0杂合子患者分为3组,包括αα/αα,ChineseGγ+(Aγδβ)0/βN组(149例)、-α/αα,ChineseGγ+(Aγδβ)0/βN组(14例)和--/αα,ChineseGγ+(Aγδβ)0/βN组(17例);将179例SEA-HPFH杂合子患者分为3组,包括αα/αα,SEA-HPFH/βN组(150例)、-α/αα,SEA-HPFH/βN组(12例)和--/αα,SEA-HPFH/βN组(17例);差异性比较结果显示中国型Gγ+(Aγδβ)0合并α0-地贫组的Hb F明显低于合并α+-地贫组以及不合并组(P<0.05),SEA-HPFH合并α0-地贫组的平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)和Hb F明显低于合并α+-地贫组以及不合并组(P<0.05)。结论上述研究成果不仅可增强临床医师对缺失型β-地贫及其合并α-地贫的鉴别能力,提高其遗传咨询水平,还能为制定缺失型ObjectiveTo analyze the hematological characteristics of patients with three common deletionalβ-thalassemias(β-thal)and concomitantα-thal in Huizhou,Guangdong province.MethodsA total of 1335 subjects of childbearing age with hemoglobin F(Hb F)≥5%at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort.The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis,while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletionalβ-thal,respectively.The hematological characteristics of patients with the deletionalβ-thal were analyzed.This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital[Ethics No.20231107(B2)].Results①A total of 384 cases of the three common deletionalβ-thal were identified,including 184 cases of Chinese Gγ+(Aγδβ)0,191 cases of Southeast Asian hereditary persistence of fetal hemoglobin(SEA-HPFH),and nine cases of Taiwan Residents,for a total detection rate of 28.76%.②Patients who did not meet the established criteria were excluded from the study,leaving 372 cases.All of which presented with hypochromic microcytic anemia and significantly elevated Hb F.Except for normal or decreasing of Hb A 2 levels in patients with Chinese Gγ+(Aγδβ)0,the levels of Hb A 2 in patients with the other two deletionalβ-thal were increased with different degrees.Differential comparison results showed that significant differences were observed in Hb A 2 and Hb F values among the groups of the three common deletionalβ-thal heterozygotes(P<0.05).③According to the type of gene variation,180 patients with Chinese Gγ+(Aγδβ)0 heterozygotes were divided into three groups,includingαα/αα,Chinese Gγ+(Aγδβ)0/βN(149),-α/αα,Chinese Gγ+(Aγδβ)0/βN(14),and--/αα,Chinese Gγ+(Aγδβ)0/βN(17).Similarly,179 patients with SEA-HPFH heterozygotes were divided i

关 键 词：缺失型β-地中海贫血 合并α-地中海贫血 血液学特征 血红蛋白F 

分 类 号：R556[医药卫生—血液循环系统疾病]