Kalantri Siddhesh Arun, Ray Rudra, Choudhuri Soumita, Roy Swarnalata, Bhattacharyya Maitreyee
Institute of Haematology and Transfusion Medicine, MCH Building, 3rd Floor, Medical College Kolkata, 88 College Street, Kolkata, 73 India.
Indian J Hematol Blood Transfus. 2020 Jan;36(1):123-128. doi: 10.1007/s12288-019-01176-9. Epub 2019 Sep 6.
HbE Beta thalassemia is phenotypically very diverse disease. We aim to study role of various genetic factors in determining severity of this disease. 243 diagnosed cases of HbE Beta thalassemia were included in this study. Patients were divided in two arms-transfusion dependent and non-transfusion dependent arms. Various factors (percentage of haemoglobin F, hemoglobin E, type of Beta mutation, Xmn1 polymorphism, alpha deletion, HPFH mutation) were evaluated in these patients. Xmn1 polymorphism (homozygous and heterozygous), presence of HPFH mutation and alpha deletion were more prevalent in NTDT arm versus TDT arm ( value < 0.001). Higher prevelance of severe beta mutation IVS 1-5 (G → C) mutation {64(61.54%) vs 38(27.34); value < 0.001} was found in TDT arm when above factors were excluded from analysis. Higher mean haemoglobin F and mean Hemoglobin E percentage was associated with NTDT arm ( value < 0.001). Various factors (hemoglobin F and E percentage, Xmn1 polymorphism, HPFH mutation, alpha deletion and IVS 1-5 Beta mutation) were identified to affect severity of this cohort.
HbEβ地中海贫血是一种表型非常多样的疾病。我们旨在研究各种遗传因素在决定该疾病严重程度中的作用。本研究纳入了243例确诊的HbEβ地中海贫血病例。患者被分为两组——输血依赖组和非输血依赖组。对这些患者评估了各种因素（血红蛋白F、血红蛋白E的百分比、β突变类型、Xmn1多态性、α缺失、遗传性胎儿血红蛋白持续存在突变）。与输血依赖组相比，Xmn1多态性（纯合子和杂合子）、遗传性胎儿血红蛋白持续存在突变的存在以及α缺失在非输血依赖组中更为普遍（P值<0.001）。当在分析中排除上述因素时，在输血依赖组中发现严重的β突变IVS 1-5（G→C）突变的发生率更高{64（61.54%）对38（27.34）；P值<0.001}。较高的平均血红蛋白F和平均血红蛋白E百分比与非输血依赖组相关（P值<0.001）。已确定各种因素（血红蛋白F和E百分比、Xmn1多态性、遗传性胎儿血红蛋白持续存在突变、α缺失和IVS 1-5β突变）会影响该队列的严重程度。
