Tabone P, Henni T, Belhani M, Colonna P, Verdier G, Godet J
Acta Haematol. 1981;65(1):26-31. doi: 10.1159/000207145.
A case of Hb H disease from Algeria was studied at the genetic and molecular level in order to delineate the pattern of alpha-thalassemia in the Mediterranean population. The family study indicated that both parents had the hematological and clinical manifestation of alpha-thalassemia trait and that the affected sibling had homozygous alpha-thalassemia with 5.6% Hb H, microcytosis and an alpha-/non-alpha-biosynthetic ratio of 0.64. Hybridization in globin cDNA alpha excess suggested that the molecular defect responsible for this form of alpha-thalassemia is a partial deletion of the haploid stock of alpha-globin genes. The Algerian case of Hb H disease studied thus differs from Asian and Negro cases by the mode of inheritance of the alpha-thalassemia mutation involved.
为了描绘地中海人群中α地中海贫血的模式，对来自阿尔及利亚的一例血红蛋白H病（Hb H病）进行了基因和分子水平的研究。家系研究表明，父母双方都有α地中海贫血特征的血液学和临床表现，而患病的兄弟姐妹患有纯合子α地中海贫血，血红蛋白H含量为5.6%，存在小红细胞症，α/非α生物合成比率为0.64。在α珠蛋白cDNA过量的情况下进行杂交表明，导致这种形式的α地中海贫血的分子缺陷是α珠蛋白基因单倍体库的部分缺失。因此，所研究的阿尔及利亚Hb H病病例在涉及的α地中海贫血突变的遗传模式上与亚洲和黑人病例不同。
