Xie Jianhong, Zhou Yuqiu, Xiao Qizhi, Long Ruoting, Li Lianxiang, Li Lei
Department of Clinical Laboratory, Zhuhai Municipal Maternal and Child Healthcare Hospital, Zhuhai, China.
Hematol Rep. 2019 Sep 18;11(3):7911. doi: 10.4081/hr.2019.7911.
Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. Three types have been defined, based on the degree of reduced beta-globin chain synthesis and clinical phenotype: major, intermedia and minor (heterozygote carrier state). Beta thalassemia intermedia is characterized by heterogeneity for the wide clinical spectrum of various genotypes and a wide range of presentations. The genotypes of beta thalassemia intermedia are much complicated referring to β/β,β/β, Hb E/β, β/β compounding alpha thalassemia and so on. In this present case, we reported a rare beta thalassemia intermedia genotype of double heterozygosity for poly A (A〉 G) and CD17(A〉 T) indicated of β/β in a Chinese family.
β地中海贫血是一种遗传性疾病，由β珠蛋白基因突变导致α/β失衡、无效造血和慢性贫血。根据β珠蛋白链合成减少的程度和临床表型，已定义了三种类型：重型、中间型和轻型（杂合子携带者状态）。β地中海贫血中间型的特点是各种基因型的临床谱广泛且表现形式多样，具有异质性。β地中海贫血中间型的基因型非常复杂，如β/β、β/β、Hb E/β、β/β合并α地中海贫血等。在本病例中，我们报道了一个中国家庭中一种罕见的β地中海贫血中间型基因型，即聚腺苷酸（A〉G）和CD17（A〉T）双重杂合子，提示为β/β。
