【摘 要】
：
Mutations in human Krǖppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2).As increased HbF and HbA2 levels are importa
【机 构】
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Department of Medical Genetics,School of Basic Medical Sciences,Southern Medical University,Guangzho
【出 处】
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2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
论文部分内容阅读
Mutations in human Krǖppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2).As increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China.For this, we first studied the incidence of KLF1 mutations in two Chinese populations: 3839 individuals from a thalassemia endemic region in south Chinaand1190 individuals from a non-thalassemia endemic region in north China.Interestingly we found that the prevalence of KLF1 mutations is significantly higher in thalassemia endemic region than that in non-thalassemia endemic region (1.25％ versus 0.08％).
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