血红蛋白S和血红蛋白E双杂合子——来自印度中部的一例病例报告
Double heterozygous for hemoglobin S and hemoglobin E - a case report from central India.
作者信息
Dani A A, Shrikhande A V
机构信息
Department of Pathology, I.G.M.C., Nagpur, India.
出版信息
Indian J Hematol Blood Transfus. 2007 Dec;23(3-4):119-21. doi: 10.1007/s12288-008-0012-0. Epub 2008 Mar 19.
Double heterozygosity for HbS and HbE is rare. HbS and HbE are seen in SC, ST and OBC communities from this part of country. Inter caste marriages amongst these communities have resulted into this compound heterozygous condition. Double heterozygous state for HbS and HbE is clinically silent as compared to HbS-β Thalassaemia and HbSS cases. At Regional Hemoglobinopathy Detection and Management Center, we report a case of 15-year-old male, Teli (OBC) by caste who came for screening for sickle cell disorder. Sickling, solubility test and Hb electrophoresis on agar gel at alkaline pH was carried out. His sickling and solubility tests were positive and on hemoglobin electrophoresis it showed two bands one at Hb A(2) position and another at HbS position. For further confirmation sample was subjected for quantitation of haemoglobin on high performance liquid chromatography (HPLC), Bio-Rad. On quantitation he was having HbS 59.8%, HbE 33.5% and HbF 3.2% confirming his double heterozygous state for HbS and HbE. On family screening his father turned out to be sickle cell trait and mother as hemoglobin E trait.
HbS和HbE的双重杂合性较为罕见。在该国这一地区的首陀罗、部落民和其他落后阶层群体中可发现HbS和HbE。这些群体之间的种姓间通婚导致了这种复合杂合状态。与HbS-β地中海贫血和HbSS病例相比，HbS和HbE的双重杂合状态在临床上没有症状。在地区血红蛋白病检测与管理中心，我们报告了一例15岁男性病例，其种姓为泰利（属于其他落后阶层），前来筛查镰状细胞疾病。进行了镰变试验、溶解度试验以及在碱性pH条件下的琼脂凝胶血红蛋白电泳。他的镰变试验和溶解度试验呈阳性，血红蛋白电泳显示两条带，一条位于Hb A(2)位置，另一条位于HbS位置。为进一步确诊，将样本用伯乐高效液相色谱仪进行血红蛋白定量分析。定量结果显示，他的HbS为59.8%，HbE为33.5%，HbF为3.2%，证实了他处于HbS和HbE的双重杂合状态。对其家族进行筛查后发现，他的父亲为镰状细胞性状，母亲为血红蛋白E性状。
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