铅中毒引起的严重溶血性贫血,嗜碱性点染,模仿轻微β -血友病红细胞嘧啶5′-核苷酸酶缺乏

P. Warang, R. Colah, P. Kedar
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引用次数: 5

摘要

铅是一种剧毒金属,毒性很强。铅中毒通常持续数月或数年。中毒会导致严重的精神和身体损伤。幼儿最容易受到铅中毒[1-2]。铅中毒伴随着获得性红细胞嘧啶5′核苷酸酶(p5′n)的缺乏。基因决定的p5n酶缺乏与慢性溶血、外周血涂片上红细胞嗜碱性斑点和红细胞内含嘧啶核苷酸的积累有关[3-4]。含嘧啶核苷酸在正常红细胞中几乎不存在,但据报道,铅中毒患者血液中12%的红细胞中嘧啶核苷酸积累,p5n活性被抑制到正常红细胞的50%[2]。在大多数β地中海贫血携带者和其他血红蛋白变体(Hb-E)中,嘌呤/嘧啶核苷酸比率略有降低,但P5'N-1活性正常[5]。本报告描述了两名印度患者的铅致溶血性贫血的临床严重程度,这些患者嗜碱性点染与含嘧啶核苷酸的红细胞内积聚有关,类似于遗传性p5n缺乏症。
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Lead Poisoning Induced Severe Hemolytic Anemia, Basophilic Stippling,Mimicking Erythrocyte Pyrimidine 5'-nucleotidase Deficiency in BetaThalassemia Minor
Lead is a highly toxic metal and a very strong poison. Lead poisoning usually occurs over a period of months or years. The poisoning can cause severe mental and physical impairment. Young children are most vulnerable to lead poisoning [1-2]. Lead poisoning is accompanied by an acquired deficiency of erythrocyte pyrimidine 5'nucleotidase (P5’N). Genetically determined deficiency of P5’N enzyme was associated with chronic hemolysis, marked basophilic stippling of erythrocytes on peripheral blood smear and accumulations of intra-erythrocyte pyrimidine-containing nucleotides [3-4]. Pyrimidine-containing nucleotides are almost absent in the normal erythrocytes but it was reported that in lead poisoning, 12% of erythrocyte showed accumulation of pyrimidine nucleotides in the blood of a patient and P5’N activity was suppressed to 50% that in normal erythrocytes in lead poisoning [2]. In most of βthalassemia carriers and other hemoglobin variant (Hb-E) showed marginally reduced Purine/Pyrimidine nucleotide ratios but normal P5’N-1 activity [5]. This report describes the clinical severity of leadinduced hemolytic anemia in two Indian patients with basophilic stippling associated with intra-erythrocyte accumulations of pyrimidine-containing nucleotides which mimicking hereditary P5’N deficiency.
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