遗传性持续性胎儿血红蛋白增高症（HPFH）的分子机制 [中文引用][英文引用]

遗传性持续性胎儿血红蛋白增高症（Hereditary persistence of fetal hemoglobin，HPFH）是成人红细胞中持续存在过量的胎儿血红蛋白 (Fetal hemoglobin，Hb F)，血液学检查正常的遗传综合征。携带者常无临床症状。HPFH具有高度的遗传异质性，分子机制主要涉及11p15上β-类珠蛋白基因的遗传缺陷导致的Hb F异常高表达。最近的研究表明，HPFH具有数量性状遗传特点，其发生机制可能不局限于单纯的β-类珠蛋白基因上的遗传缺陷，HPFH还与多个基因座的异常有关，具有数量性状位点（quantitative trait loci，QTL）的遗传特征。主要包括QTL6q23和QTL2p15等的异常。通过HPFH来探索珠蛋白基因的网络化表达调控机制，为镰状细胞性贫血、重型地中海贫血等疾病的治疗研究开拓了新路径。

Hereditary persistence of fetal hemoglobin (HPFH) is a group of genetic syndromes with normal blood test and the persistence of excessive Hb F (Fetal hemoglobin) in the adult red blood cells. Most carriers of HPFH have no clinical symptoms. HPFH has a high degree of genetic heterogeneity. The molecular mechanisms of HPFH involves in abnormal expression of Hb F caused by genetic defects of beta-globin gene cluster on 11p15. Recently, several studies revealed that HPFH has characteristics of quantitative trait loci (QTL). The mechanism of HPFH may not only be limited to genetic defects within the beta-globin gene cluster, but also be related to abnormalities in multiple loci, including QTL6q23 and QTL2p15. Through exploring the expression and regulation mechanisms of globin gene regulation network, a new gate for studies on the treatment of sickle cell anemia and thalassemia has been opened.