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利用一般血红蛋白检验,限制性内切酶及印迹杂交技术,分析了广西一个家庭五个成员的血红蛋白组成和α-珠蛋白基因组织,先证者β-珠蛋白基因表达正常(β~Aβ~A),但为α-地贫1与左侧缺失α-地贫2双重杂合子(-α/--),临床上表现为HbH病。先证者父母均为β-地贫杂合子(β~Aβ~T),但又分别为左侧缺失α-地贫2杂合子(-α/--),或α-地贫1杂合子(--/αα),他们无贫血症状。两个弟弟的α-珠蛋白基因型与先证者相同(-α/--),但又分别为β-地贫杂合子(β~Aβ~T)和β-地贫纯合子(β~Tβ~T),二者均无HbH检出,贫血症状也较轻。结果说明α-与β-地贫复合时确使二者不均衡状态改善,贫血症状明显减轻。
Using hemoglobin test, restriction endonuclease and imprinted hybridization technique, the hemoglobin composition and α-globin gene organization of five members of one family in Guangxi were analyzed, and the proband β-globin gene was expressed normally (β ~ Aβ ~ A ), But for the α-thalassemia 1 and the left missing α-thalassemia 2 double heterozygotes (-α / -), the clinical manifestations of HbH disease. Parents of probands were β-thalassemia heterozygotes (β ~ Aβ ~ T), but were also missing left a-thalassemia heterozygotes (-α / -), or α-thalassemia heterozygotes (- / αα), they have no symptoms of anemia. The alpha-globin genotypes of the two younger brothers were the same as those of the proband (-α / -), but they were β-thalassemia homozygotes (β ~ Aβ ~ T) and β-thalassemia homozygotes (β ~ Tβ ~ T), both were not detected HbH, anemia symptoms are also lighter. The results showed that α-β-thalassemia complex does not improve the imbalance between the two states, anemia symptoms significantly reduced.