Hematological features and molecular lesions of hemoglobin gene disorders in Taiwanese patients
Hematological features and molecular lesions of hemoglobin gene disorders in Taiwanese patients
复制标题
DOI：
10.1111/j.1751-553x.2008.01095.x
复制
发表时间：
2010-02-01
影响因子：
3
通讯作者：
Chang, J. -G.
中科院分区：
文献类型：
--
作者：
Lin, H. -J.;Shih, M. -C.;Chang, J. -G.
血红蛋白（Hb）基因异常是台湾最常见的遗传性疾病之一，包括α-地中海贫血、β-地中海贫血和Hb变异体。本研究收集并分析了930例除HbBart's水肿和重型β地中海贫血以外的Hb基因异常患者的突变。其中α-地中海贫血650例，β-地中海贫血225例，α-地中海贫血合并β-地中海贫血9例，Hb变异体或Hb变异体合并α-地中海贫血或β-地中海贫血46例。在我们的研究中，最常见的α 0-地中海贫血和α ++-地中海贫血突变类型分别是SEA型缺失和α 3.7缺失;最常见的β-地中海贫血突变是IVS-2 nt 654 C -> T突变;最常见的Hb变体是HbE。我们比较了各种Hb基因异常的基因型与血液学表型之间的关系，发现不同基因型的α 0地中海贫血具有相似的血液学特征。总之，我们的研究结果提供了地中海贫血和血红蛋白变异体的复杂相互作用的数据，这可能是有用的，在这个领域的其他研究人员。
P>Hemoglobin (Hb) gene disorders are one of the most common inherited diseases in Taiwan, which include alpha-thalassemia, beta-thalassemia, and Hb variants. In this study, we collected and analyzed mutations found in 930 patients with Hb gene disorders except Hb Bart's Hydrops and beta-thalassemia major. The patients included 650 cases of alpha-thalassemia, 225 cases of beta-thalassemia, 9 cases of alpha-thalassemia combined with beta-thalassemia, and 46 cases of Hb variants or Hb variants combined with alpha-thalassemia or beta-thalassemia. The most common type of alpha 0-thalassemia and alpha++-thalassemia mutations in our study were the SEA type deletion and the alpha 3.7 deletion, respectively; the most common beta-thalassemia mutation was the IVS-2 nt 654 C -> T mutation; and the most common Hb variant was the HbE. We compared the relationships between genotype and hematological phenotypes of various Hb gene disorders and found that different genotypes of alpha 0-thalassemia have similar hematological features. In conclusion, the results of our study provide data of the complex interaction of thalassemias and Hb variants which might be useful for other researchers in this field.