一名患有血红蛋白E-β0地中海贫血[IVS-I-1（G→A）]并伴有α-珠蛋白基因三倍体的捷克斯洛伐克青少年。
A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication.
作者信息
Indrak K, Fei Y J, Li H W, Baysal E, Brabec V, Fortova H, Cermak J, Huisman T H
机构信息
Department of Cell and Molecular Biology Medical College of Georgia, Augusta 30912-2100.
出版信息
Ann Hematol. 1991 Jul;63(1):42-4. doi: 10.1007/BF01714960.
We have examined the molecular basis of three inherited hemoglobin (Hb) disorders present in a Czechoslovakian girl with a severe, transfusion-dependent, hemolytic anemia. She is heterozygous for Hb E (on a genetic background specific for Czechoslovakian families), heterozygous for the beta zero-thalassemia (thal) allele IVS-I-1 (G----A), and heterozygous for an alpha-globin gene triplication. The combination of these three undesirable traits results in a severe chain imbalance that is the basis of the serious hemolytic disorder observed in this teenager.
我们研究了一名患有严重、依赖输血的溶血性贫血的捷克斯洛伐克女孩所患的三种遗传性血红蛋白（Hb）疾病的分子基础。她是Hb E杂合子（在捷克斯洛伐克家庭特有的遗传背景下），β0地中海贫血（thal）等位基因IVS-I-1（G→A）杂合子，以及α-珠蛋白基因三倍体杂合子。这三种不良性状的组合导致了严重的链失衡，这是该青少年所观察到的严重溶血性疾病的基础。
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