α-珠蛋白基因三倍体的频率及其与β-地中海贫血突变的相互作用。

Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations.

作者信息

Giordano Piero C, Bakker-Verwij Margaretha, Harteveld Cornelis L

机构信息

Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

出版信息

Hemoglobin. 2009;33(2):124-31. doi: 10.1080/03630260902827684.

DOI:10.1080/03630260902827684

PMID:19373588

Abstract

Our protocol for specialized diagnostics includes routine alpha-globin gene analysis for all blood samples referred to our diagnostic laboratory. alpha-Globin gene triplication is found to be present in more than 1% of samples tested. Since all cases with single alpha-gene triplications are associated with normal hematological parameters, we assume that preselection does not bias our observation and that alpha-globin gene triplications should be expected at the same frequency in the unselected Dutch multiethnic population as well. We have compared the average hematological parameters of beta-thalassemia (beta-thal) carriers with those of carriers with an associated alpha-gene triplication. In all cases, a single additional alpha gene had a very limited effect on the beta-thal minor phenotypes.

摘要

我们的专业诊断方案包括对所有送至我们诊断实验室的血液样本进行常规α珠蛋白基因分析。在超过1%的检测样本中发现存在α珠蛋白基因三倍体。由于所有单α基因三倍体病例的血液学参数均正常，我们认为预筛选不会使我们的观察结果产生偏差，并且在未经过筛选的荷兰多民族人群中，α珠蛋白基因三倍体出现的频率也应相同。我们比较了β地中海贫血（β-地贫）携带者与伴有α基因三倍体的携带者的平均血液学参数。在所有病例中，额外的单个α基因对β-地贫轻型表型的影响非常有限。