Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Daneshjoo Blvd., Koodakyar St, Tehran, Iran.
Ann Hematol. 2013 Mar;92(3):289-99. doi: 10.1007/s00277-012-1671-3. Epub 2013 Jan 15.
Hydroxyurea (HU) is a drug that induces fetal hemoglobin production. As a result, HU is widely used to treat β-thalassemia (β-thal) patients. However, the response of these patients to HU varies. Some β-thal patients respond favorably to treatment while others do not respond at all. HU has a number of side-effects and therefore its targeted prescription is beneficial. Hence, identifying the genetic determinants which lead to the differential HU response is important. This review summarizes recent findings which have shed light on this topic. Special emphasis is given to the mechanisms and genetic loci which may govern these differences. These findings have helped identify several single nucleotide polymorphisms which associate with the response to HU in both β-thal and sickle cell disease patients.
羟基脲（HU）是一种诱导胎儿血红蛋白产生的药物。因此，HU 被广泛用于治疗β-地中海贫血（β-thal）患者。然而，这些患者对 HU 的反应各不相同。一些β-thal 患者对治疗反应良好，而另一些患者则完全没有反应。HU 有许多副作用，因此有针对性地开处方是有益的。因此，确定导致 HU 反应差异的遗传决定因素很重要。这篇综述总结了最近的发现，这些发现阐明了这一主题。特别强调了可能控制这些差异的机制和遗传位点。这些发现帮助确定了几个与 HU 在β-地中海贫血和镰状细胞病患者中的反应相关的单核苷酸多态性。
