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∝-地中海贫血病在我国海南岛也是一种较为常见的遗传性疾病。本文报道应用∝-珠蛋白基因探针以及限制性内切酶图谱印迹杂交技术分析海南岛两个HbH家系(汉族)的∝-珠蛋白基因型。其中家系一(一家共六人:父、母、大姐姐、二哥哥、三哥哥及先证者林某)的∝-珠蛋白基因型分别为:先证者林某是非缺夫型与∝-地贫_1双重杂合子(∝∝~T/--)、父亲是∝-地贫_1杂合子(∝∝/--)、母亲是非缺失型杂合子(∝∝~T/∝∝)、大姐姐是∝-地贫_1杂合子(∝∝/--)、两位哥哥是正常∝-珠蛋白基因型或非缺失型杂合子(∝∝/∝∝)或(∝∝~T/∝∝);家系二(一家共四人:父、母、哥哥及先证者范某某)的∝-珠蛋白基因型分别为:先证者范某某是∝地贫_1与∝-地贫-1双重杂合子(-∝/--)、父亲是∝-地贫_1杂合子(∝∝/--),母亲是∝-地贫_2杂合子(-∝/∝∝),哥哥是正常∝珠蛋白基因型(∝∝/∝∝)。
Α-thalassemia in Hainan Island in China is also a more common genetic disease. In this paper, α-globin genotypes of two HbH pedigrees (Han nationality) in Hainan Island were analyzed using α-globin gene probes and restriction endonuclease profiling techniques. One family (a total of six: a father, mother, big sister, second brother, third brother and proband Lin) the a-globin genotypes were: proband Lin is non-non-absent husband-type and α- Thalassemia-1 double heterozygote (αα ~ T / -), the father is α-thalassemia_1 heterozygote (αα / -), the mother is non-deletion heterozygote , The eldest sister is α-thalassemia_1 heterozygous (αα / -), the two brothers are normal α-globin genotype or non-deletion heterozygous (αα / αα) or (αα ~ T / Αα). The genotypes of α-globin in the two pedigrees (a total of four persons: father, mother, brother and proband) were as follows: proband Fan Moumou is α thalassemia-1 and α - thalassemia-1 double heterozygote (-α / -), the father is α-thalassemia-1 heterozygote (αα / -) and the mother is α-thalassemia-2 heterozygote ), His brother is a normal alpha globin genotype (αα / αα).