Cao Antonio
Dipartimento di Scienze Biomediche e Biotecnologie, Università Studi Cagliari, Italy.
Int J Hematol. 2002 Aug;76 Suppl 2:105-13. doi: 10.1007/BF03165098.
This paper review the most important aspects of carrier detection procedures, genetic counselling, population screening and prenatal diagnosis of beta-thalassemias. Carrier detection can be made retrospectively, following the birth of an affected child or prospectively. Several programmes, with the aim of preventing homozygous beta-thalassemia, based on carrier screening and counselling of couples at marriage; preconception or early pregnancy, are operating in several Mediterranean at-risk populations. These programmes have been very effective, as indicated by increasing knowledge on thalassemia and its prevention by the target population and by the marked decline of the incidence of thalassemia major. Carrier detection is carried out by haematological methods followed by mutation detection by DNA analysis. Prenatal diagnosis is accomplished by mutation analysis on PCR-amplified DNA from chorionic villi. Future prospects include automation of the process of mutation-detection, simplification of preconception and preimplantation diagnosis and fetal diagnosis by analysis of fetal cells in maternal circulation.
本文综述了β地中海贫血携带者检测程序、遗传咨询、群体筛查和产前诊断的最重要方面。携带者检测可以在患病儿童出生后进行回顾性检测，也可以进行前瞻性检测。为预防纯合子β地中海贫血，在地中海地区几个高危人群中开展了多个基于对新婚夫妇、孕前或孕早期夫妇进行携带者筛查和咨询的项目。这些项目非常有效，目标人群对地中海贫血及其预防的认识有所提高，重型地中海贫血的发病率显著下降，都表明了这一点。通过血液学方法进行携带者检测，随后通过DNA分析进行突变检测。产前诊断通过对绒毛膜绒毛PCR扩增的DNA进行突变分析来完成。未来的前景包括突变检测过程的自动化、孕前和植入前诊断的简化以及通过分析母血中的胎儿细胞进行胎儿诊断。
