Abstract: Objective　To study the rare gene mutation types of thalassemia in Southern Fujian. Methods　From November 2017 to May 2022, a total of 38 samples from southern Fujian Province were identified by gap-polymerase chain reaction and DNA sequencing, which were suspected to be rare thalassemia because their hematological phenotypes were inconsistent with the detection results of common gene mutations. There were 16 males who were 5-47 years old and 22 females who were 15-56 years old. Results　A total of 21 cases of thalassemia rare gene mutations were detected, including 6 rare α Globin gene mutations; there were 8 cases of Thai type deletion (--^THAI), 2 cases of Hong Kong type deletion (HK αα), 2 cases of Filipino type (--^FIL), 1 case of CD 30 (-GAG), 1 case of CD 122 CAC>CAG,WSM, and 1 case of αα/ααα^anti4.2; of which, 2 cases of Filipino type (--^FIL) came from a mother and her son. There were 6 rare β Globin gene mutations, including 1 case of CD56 GGC>GAC heterozygous mutation, 2 cases of IVS I-129 A>G heterozygous mutation, 1 case of CD54 GTT>GTC heterozygous mutation combined with Terminal CD +32 A>C heterozygous mutation, 1 case of 113A>G (Poly A (A>G) AATAAA>AATAAG), and 1 case of Vietnam HPFH deletion β thalassemia. Among them, the mutation of CD54 GTT>GTC heterozygous mutation was first reported. Conclusion　In this study, several rare thalassemia genes were analyzed to complete the types of thalassemia gene mutations in Southern Fujian, which can provide necessary molecular information for the detection and diagnosis of thalassemia genes.

Key words: Thalassemia, Gene mutations, Rare mutations

摘要： 目的　研究福建闽南地区地中海贫血（又称地贫）的罕见基因突变类型。方法　收集2017年11月至2022年5月厦门大学附属成功医院来自于福建闽南地区的38例因血液学检测的结果与常规基因突变测定结果不相符、可能是罕见的地贫类型的样本，其中男16例，年龄5～47岁；女22例，年龄15～56岁，运用跨越断裂点聚合酶链反应和DNA测序法进行一一鉴定。结果　本研究检出了地贫罕见基因突变21例，其中包括了罕见的 α 珠蛋白基因突变6种，分别是8例泰国型缺失（--^{T HAI} ）、2例中国香港型缺失 （HKαα） 、2例菲律宾型（--^FIL）、1例CD 30（-GAG）、1例CD 122 CAC>CAG，WSM和1例αα/ααα^anti4.2，其中，2例--^FIL来源于一对母子；罕见 β 珠蛋白基因突变6种，分别为1例CD56 GGC>GAC、2例IVS I-129 A>G、1例同时检出CD54 GTT>GTC和Terminal CD +32 A>C两种突变、1例113A>G（Poly A （A>G） AATAAA>AATAAG）、1例越南型-HPFH（Vietnamese HPFH）缺失型β地贫，其中CD54 GTT>GTC突变为首次报道。结论　本研究通过测定的几种较罕见地贫基因加以了分析，对福建闽南地区地贫基因突变的种类加以了补充，可为地贫基因的检测诊断提供必要的分子信息 。

关键词: 地中海贫血, 基因突变, 罕见突变