Thalassemia and abnormal hemoglobin
Thalassemia and abnormal hemoglobin
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DOI：
10.1007/bf03165094
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发表时间：
2002-08-01
影响因子：
2.1
通讯作者：
Winichagoon, P
中科院分区：
文献类型：
--
作者：
Fucharoen, S;Winichagoon, P
地中海贫血和血红蛋白异常是亚洲常见的遗传性疾病。地中海贫血不仅是一个重要的公共卫生问题，也是该地区许多国家的社会经济问题。应对地中海贫血问题的出路是预防和控制新病例的产生。这需要准确识别地中海贫血高危夫妇。然而，地中海贫血携带者状态的诊断需要多项测试，这对于筛查广大人群来说是不切实际的。最近，我们使用了两项简单的实验室测试来筛查潜在的地中海贫血携带者和血红蛋白 E 个体。利用自动高效液相色谱仪诊断地中海贫血病及其携带者也有新进展。该系统可以在同一次运行中对血红蛋白成分进行定性和定量分析，具有良好的精度和重现性。该系统已应用于研究地中海贫血以及成人和脐带血中的异常血红蛋白。该系统使我们能够在几分钟内完成地中海贫血的产前和产后诊断。然而，这些筛查测试都不能准确地给出地中海贫血基因型的具体诊断。特定的地中海贫血突变可以通过DNA分析进行。许多DNA技术已被用于点突变检测和小缺失。过去几年，DNA 芯片技术的发展也已应用于地中海贫血突变。临床上，地中海贫血的表现非常不均匀。尽管基因型看似相同，但β地中海贫血患者的严重程度可能差异很大。 β 地中海贫血疾病临床表现的异质性可能是由于 β 珠蛋白基因突变的性质、α 地中海贫血基因相互作用以及 Hb F 产生量的差异而产生的，而 Hb F 产生量的差异部分与特定的 β 珠蛋白单倍型相关。然而，仍有一些β地中海贫血病例具有轻微的临床症状，而没有已知的遗传因素相互作用，这表明还有其他因素导致了该疾病的轻微程度。
Thalassemia and abnormal hemoglobins are common genetic disorders in Asia. Thalassemia is not only an important public health problem but also a socio-economic problem of many countries in the region. The approach to deal with the thalassemic problem is to prevent and control birth of new cases. This requires an accurate identification of the couple at high risk for thalassemia. However, the diagnosis of thalassemia carrier states need several tests which are not practical for screening the population at large. Recently we have used two simple laboratory tests to screen for potential thalassemia carriers and hemoglobin E individuals. There is also a new development in using the automatic HPLC to diagnose thalassemic diseases and the carriers. This system gives both qualitative and quantitative analysis of hemoglobin components in the same run with good precision and reproducibility. The system has been applied to study thalassemia and abnormal Hb in adult and cord blood. This system has enabled us to do both prenatal and postnatal diagnosis of thalassemia within the few in minutes. However, none of these screening tests can accurately give specific diagnosis of the thalassemia genotype. Specific thalassemia mutation can be carried out by DNA analysis. Many DNA techniques have been used for point mutation detection and small deletion. For the last few years there is a development of DNA chip technology that has been applied for thalassemia mutation as well. Clinically, thalassemia is very heterogeneous in the manifestation. In spite of seemingly identical genotypes, severity of beta thalassemic patients can vary greatly. Heterogeneity in the clinical manifestation of beta thalassemic diseases may occur from the nature of beta globin gene mutation, alpha thalassemia gene interaction and difference in the amount of Hb F production which is partly associated with a specific beta globin haplotype. However, there is still some beta thalassemia cases that have a mild clinical symptom without those known genetic factors interaction suggesting that there are other additional factors responsible for the mildness of the disease.