15例非典型β地中海贫血杂合子分析

AN ANALYSIS OF 15 CASES OF ATYPICAL β-THALASSEMIA HETEROZYGOTE

对１５例“非典型β地中海贫血杂合子”进行了血液学，血红蛋白组成，肽链生物合成速率和珠蛋白基因及其ｍＲＮＡ含量的分析。发现患者β珠蛋白基因的表达呈中等程度甚至较明显的减少，结合家系调查，认为他们是典型β地中海贫血基因和非典型β地中海贫血基因的复合杂合子。提出应用药物（如羟基脲）来调变珠蛋白基因的表达可能是治疗“非典型性β地中海贫血杂合子”的有效途径。

his article describes a study of hematology,hemoglobin constitutions, globin chain biosynthesis andglobin gene as well as globin mRNA in 15 cases of atypi-cal β-thalassemia heterozygote. The results indicated amoderate or severe reduction in the expression of the pa-tients'β-globin genes. Combined with pedigree analysis,we could conclude that the patients were compound het-erozygous status carrying both typical and atypical β-tha-lassemia alleles. It is proposed that the application ofsome drugs(e. g. hydroxyurea) for modulating the ex-pression of lassemia heterozygote.