【摘要】 血红蛋白H病在临床上具有明显的遗传异质性,基因型相同的个体,其临床表型可能有显著差异,其变化范围从轻度贫血到重度贫血,经典遗传学不足以解释其差异性,有报道AHSP、BRG1及PIP4 KⅡα可调控α-珠蛋白基因的表达,影响α-地中海贫血的临床表型,本文就这三个基因对Hb H病表型多样性的影响进行综述。更多还原

【Abstract】 Hemoglobin H disease is of genetic heterogeneity in the clinical. The individuals with the same genotype may present from mild to severe anemia which cannot be fully interpreted by typical genetics at present. It was reported that the expression of alpha globin gene may be regulated by some genes, such as AHSP, BRG1 and PIP4 KIIα. We reviewed the effects of these three genes on the phenotype diversity of Hb H disease.更多还原