Thalassemia Carriers among Healthy Blood Donors

E. Ezalia, A. SharifahZahra, Elfina Ir, G. Elizabeth, Hayati Wmy, A. Norhanim, A. Wahidah, Chin Ym, A. Rahimah, Z. Zubaidah
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引用次数: 1

Abstract

Thalassemia is a common hereditary anaemia in Southeast Asia which may also be found among healthy blood donors. The established screening method is less sensitive and can miss donors with clinically silent Thalassemia. The Thalassemia screening tests may help in selection of truly healthy blood donors, hence providing the most functional red cell concentrates for blood transfusion. This is an extension study from our previous work, aiming to detect thalassemia trait among clinically asymptomatic blood donors. We performed Thalassemia screening in 738 healthy blood donors who were allowed for blood donation using full blood count and haemoglobin (Hb) analysis. After screening analyses using high performance liquid chromatography, capillary zone electrophoresis and agarose gel electrophoresis, 85 samples were excluded from the study due to inadequate volume for DNA analysis. Five hundred twelve (512/653; 78.4%) samples were within normal limit and 74 (74/653; 11.3%) samples with Hb less than 12.5 g/dl. Thirty eight donors were found to have Thalassemia and/or haemoglobinopathies by Hb analysis. The remaining 105 blood donors samples with value of MCV less than 80 fl and/or MCH lower than 27 pg with no detectable abnormal pattern from Hb analysis subjected to multiplex PCR that was capable of detecting deletional and nondeletional of the α-globin gene. Majority (79/653; 2.1%) of them had no identified mutation while 23 (23/653; 3.5%) of them had heterozygous α-3.7 deletion, 2 (2/653; 0.3%) had heterozygous α--SEA deletion and only one (1/653; 0.1%) had heterozygous α-4.2 deletion. This data indicates that 74 (74/653; 11.3%) of our blood donors were anaemic, 64 (64/65; 39.8%) had haemoglobinopathies and 79 (79/653; 12.1%) were presumptively had iron deficiency anaemia based on red blood cell indices. Provision of best quality pack red cells should be selected for patients who require regular blood transfusion in order to maintain appropriate Hb level.
健康献血者中的地中海贫血携带者
地中海贫血是东南亚常见的遗传性贫血,在健康的献血者中也可能发现。现有的筛查方法敏感性较低,可能遗漏临床无症状的地中海贫血供者。地中海贫血筛查试验可能有助于选择真正健康的献血者,从而为输血提供最具功能的红细胞浓缩物。这是我们之前工作的延伸,旨在检测临床无症状献血者的地中海贫血特征。我们对738名允许献血的健康献血者进行了地中海贫血筛查,使用全血细胞计数和血红蛋白(Hb)分析。经高效液相色谱、毛细管区带电泳和琼脂糖凝胶电泳筛选分析,85份样品因DNA分析容量不足而被排除在研究之外。512/653;78.4%的样本在正常范围内,74份(74/653;11.3%) Hb小于12.5 g/dl的样品。38名献血者通过Hb分析发现有地中海贫血和/或血红蛋白病。其余105例MCV值低于80 fl和/或MCH值低于27 pg的献血样本,Hb分析未检测到异常模式,采用多重PCR检测α-珠蛋白基因缺失和非缺失。多数(79/653;2.1%)未发现突变,23例(23/653;3.5%)存在α-3.7杂合缺失,2 (2/653;0.3%)有杂合子α- SEA缺失,仅有1例(1/653;0.1%)存在α-4.2杂合缺失。这一数据表明74 (74/653;11.3%)的献血者贫血,64 (64/65;39.8%)有血红蛋白病,79例(79/653;12.1%)根据红细胞指数推定为缺铁性贫血。对于需要定期输血的患者,应选择提供最优质的红细胞,以维持适当的血红蛋白水平。
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