关键词: 中国型^Gγ⁺（^Aγδβ）⁰地中海贫血, gap-PCR, 临床特征

Abstract: Objective To detect the genotype and analysis the clinical features of deletional Chinese ^Gγ⁺（^Aγδβ）⁰-thalassemia.Methods According to the data of hematology parameters,hemoglobin electrophoresis analysis and conventional α-thalassemia gene and β-thalassemia gene detection results,126 suspected Chinese^Gγ⁺（^Aγδβ）⁰-thalassemia carriers were found,and Gap PCR was used to detect the globin gene mutations. Result20 cases were identified to be heterozygote of deletional Chinese ^Gγ⁺（^Aγδβ）⁰-thalassemia. The value of HbF was 7.31%~19.31%, Hb was 94 g/L~141 g/L,MCV was 58 fL~77.6 fL,and MCH was 18.2 pg~25.7 pg . The other 2 cases were Chinese ^Gγ⁺（^Aγδβ）⁰-thalassemia accompanied by the common βthalassemia, hemoglobin analysis showed medium or severe anemia .Conclusion Among the high Hb F population,the proportion of Chinese ^Gγ⁺（^Aγδβ）⁰-thalassemia was not low,and the Chinese ^Gγ⁺（^Aγδβ）⁰-thalassemia heterozygotes showed normal or mild anemia,but when Chinese ^Gγ⁺（^Aγδβ）⁰-thalassemia combined with other common β-thalassemia,it showed medium or severe anaemia.

Key words: Chinese ^Gγ⁺（^Aγδβ）⁰-thalassemia, Gap-PCR, Clinical features