Fucharoen S, Winichagoon P
Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand.
Int J Lab Hematol. 2012 Dec;34(6):559-65. doi: 10.1111/j.1751-553X.2012.01446.x. Epub 2012 Jul 5.
Thalassemia and abnormal hemoglobin are the most common genetic disorders and are considered health problems in many developing countries. In the last few years, there has been much progress in laboratory diagnosis, treatment and control of thalassemia. The variation in the clinical severity in both α- and β-thalassemia reflects a genotype-phenotype interaction. This is important for future therapeutic intervention and should be well characterized in each population. The quality of life of the patients is much improved with regular blood transfusion and novel iron chelators. The cure for thalassemia is possible by stem cell transplantation and future gene therapy. It is expected that under multinational collaboration the prevention of thalassemia will happen worldwide.
地中海贫血和异常血红蛋白是最常见的遗传性疾病，在许多发展中国家被视为健康问题。在过去几年中，地中海贫血的实验室诊断、治疗和控制取得了很大进展。α和β地中海贫血临床严重程度的差异反映了基因型与表型的相互作用。这对未来的治疗干预很重要，并且在每个人群中都应得到充分表征。通过定期输血和新型铁螯合剂，患者的生活质量有了很大改善。通过干细胞移植和未来的基因治疗，治愈地中海贫血是有可能的。预计在跨国合作下，全球范围内将实现地中海贫血的预防。
