A Study to Understand the Relation Beween Fetal Haemoglobin, the Hematological Parameters and Xmn i Gene Polymorphism
A Study to Understand the Relation Beween Fetal Haemoglobin, the Hematological Parameters and Xmn i Gene Polymorphism
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胎儿血红蛋白、血液学参数与Xmn i基因多态性关系的研究
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发表时间：
2012
期刊：
影响因子：
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通讯作者：
Shriya Das
中科院分区：
文献类型：
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作者：
Shriya Das
镰状细胞病是恰蒂斯加尔邦的一个公共卫生问题。这项研究集中在镰状细胞病的三个方面。首先测定血红蛋白F的红细胞水平（高效液相色谱法测定）并与各种血液学指标（细胞计数器测定）相关联。其次，采用PCR +凝胶电泳技术，对Hb F与G γ基因Xmn I基因多态性进行相关性分析。第三，用液相色谱-质谱法将Hb SS突变体β链与Hb AA正常β链区分开来。我们发现HbF与其他血液学指标无显著相关性。与G γ基因相关的Xmn I RFLP与SS患者Hb F水平相关。β链的突变，特别是SS，通常用HPLC检测。由于突变链和正常链之间的质量差足够宽，质谱法可以被证明是检测β链突变的可行选择，特别是HbSS，因此质谱法可以灵敏地检测到。
Sickle cell disease is a public health issue in state of Chhattisgarh. The study focused on three aspects of sickle cells disease. Firstly erythrocyte levels of Hb F (measured by HPLC) was determined and correlated with various hematological indices (measured by cell counter). Secondly Hb F was correlated with Xmn I gene polymorphism of G γ gene using technique of PCR followed by gel electrophoresis. Thirdly mutant beta chain of Hb SS was distinguished from normal beta chain of Hb AA by Liquid chromatography Mass Spectrometry. We found no significant correlation between HbF and other hematological indices. Xmn I RFLP associated with G γ gene has correlation with Hb F levels in SS patients. Mutations in beta chain, particularly SS, are routinely detected by HPLC. Liquid Chromatography Mass Spectrometry can prove to be a viable option for detection of mutations in beta chain, particularly HbSS since mass difference between mutant chain and normal chain is wide enough to be sensitively detected by mass spectrometer.