摘要目的:了解广西壮族自治区（简称广西）西部地区β-地中海贫血（简称地贫）的阳性检出率和主要基因型。方法:选择2013年1月至2019年12月在右江民族医学院附属医院进行地贫基因检测的26 189例受检者作为研究对象，回顾性分析其外周血样本地贫基因检测结果，通过跨越断裂点PCR（Gap-PCR）法和DNA芯片反向点杂交（RDB）技术检测我国常见的7种α-地贫和17种β-地贫基因型，对常规基因型未检出的疑似β-地贫患者进行缺失型基因检测（Gap-PCR法），对疑似罕见β-地贫患者进行基因高通量测序（Sanger法）。结果:26 189例受检者中，确诊β-地贫4 495例，阳性检出率为17.16%。共检出20种6 177个β-地贫等位基因，主要为CD17（2 712个，43.90%）和CD41-42（2 240个，36.26%），并见7种罕见等位基因： Gγ +（ Aγδβ） 0、SEA-HPFH、Hb New York、Hb G-Taipei、Hb Hezhou、Hb G-Coushatta及IVS-Ⅱ-81。4 495例β-地贫患者中，杂合子3 903例（86.83%），双重杂合子273例（6.07%），纯合子319例（7.10%）。β-地贫患者共检出48种基因型，常见的2种基因型分别为CD17/β N（1 890例，42.05%）和CD41-42/β N（1 212例，26.96%），共占69.01%（3 102/4 495）；7种罕见基因型分别为 Gγ +（ Aγδβ） 0/β N（3例），Hb New York/β N（3例），Hb G-Taipei/β N（2例），SEA-HPFH/β N、Hb Hezhou/β N、Hb G-Coushatta/β N、IVS-Ⅱ-81/β N（各1例）。共检出αβ复合地贫1 041例（3.97%，1 041/26 189），涉及116种复合基因型，以-- SEA/αα复合CD17/β N为主（144例，13.83%），其次为-α 3.7/αα复合CD17/β N（112例，10.76%）。 结论:广西西部地区是β-地贫高发区，基因型以CD17/β N及CD41-42/β N为主，变异谱复杂多样，基因型丰富。

abstractsObjective:To analyze the positive detection rate, main genotypes of β-thalassemia in western region of Guangxi Zhuang Autonomous Region (referred to as Guangxi).Methods:Retrospective analysis of 26 189 individuals who underwent gene testing for thalassemia at the Affiliated Hospital of Youjiang Medical University for Nationalities from January 2013 to December 2019. Using the crossing breakpoint PCR (Gap-PCR) and reverse dot blot (RDB) techniques to detect Chinese common type of 7 kinds of α-thalassemia and 17 kinds of β-thalassemia genotypes, high-throughput sequencing(Sanger) was performed for suspected rare β-thalassemia. Gap-PCR was used for suspected deletion β-thalassemia types.Results:β-thalassemia was diagnosed in 4 495 (17.16%) of 26 189 samples. A total of 6 177 alleles of 20 types of β-thalassemia were detected, mainly CD17 (2 712 cases, 43.90%) and CD41-42 (2 240 cases, 36.26%), including 7 rare alleles: Gγ +( Aγδβ) 0, SEA-HPFH, Hb New York, Hb G-Taipei, Hb Hezhou, Hb G-Coushatta and IVS-Ⅱ-81. There were 3 903 case (86.83%) heterozygous, 273 case (6.07%) double heterozygous, and 319 case (7.10%) homozygous among 4 495 β-thalassaemia subjects. A total of 48 genotypes were detected. The two most common genotypes were CD17/β N (1 890 cases, 42.05%) and CD41-42/β N (1 212 cases, 26.96%), accounted for 69.01% (3 102/4 495). Seven rare genotypes were detected: Gγ +( Aγδβ) 0/β N in 3 cases, Hb New York/β N in 3 cases, Hb G-Taipei/β N in 2 cases, SEA-HPFH/β N, Hb Hezhou/β N, Hb G-Coushatta/β N and IVS-Ⅱ-81/β N in 1 case each. A total of 1 041 cases (3.97%, 1 041/26 189) of 116 types of αβ-thalassemia were detected, mainly -- SEA/αα composite CD17/β N (144 cases, 13.83%), followed by -α 3.7/αα composite CD17/β N (112 cases, 10.76%). Conclusions:Western region of Guangxi is a high prevalence area of β-thalassemia, CD17/β N and CD41-42/β N are the main genotypes. The variation spectrum of β-thalassemia is complex and diverse, with rich genotype.