首页> 美国卫生研究院文献>Journal of Medical Genetics >Effectiveness of one tube osmotic fragility screening in detecting beta-thalassaemia trait.
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Effectiveness of one tube osmotic fragility screening in detecting beta-thalassaemia trait.

机译:一管渗透性脆性筛查在检测β地中海贫血特征中的有效性。

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摘要

The effectiveness of the one tube method of osmotic fragility with three buffered solutions (0.32% saline, 0.36% saline, and tyrode) as a screening test for beta-thalassaemia trait was evaluated in several groups of subjects from Greece, Yugoslavia, and Thailand. The results clearly demonstrated that 0.36% saline is the most sensitive and effective solution since it could detect 96 to 100% of heterozygotes with beta-thalassaemia, compared to about 80% with both 0.32% saline and tyrode. However, 0.36% saline gave false positive results in normal subjects and was also positive in haematological disorders which influence osmotic fragility. The screening test with 0.36% saline was applied more precisely in 1371 subjects. The test was false positive in 41 (9.1%) of 455 normal subjects while of 438 confirmed heterozygotes with beta-thalassaemia it was positive in 431 (98%) and negative in only seven (2%). The test was also found to be positive in 80% of patients with iron deficiency anaemia and alpha-thalassaemia trait, in 68% of patients with Hb E trait, in 40% of patients with Hb S trait, and in 78% of heterozygotes with rare haemoglobin variants. The increased sensitivity and effectiveness of 0.36% saline in detecting beta-thalassaemia trait and other disorders influencing osmotic fragility as compared to 0.32% saline and tyrode solutions was also confirmed in a study of 384 unselected schoolchildren.
机译:在希腊,南斯拉夫和泰国的几组受试者中,评估了使用三种缓冲溶液(0.32%生理盐水,0.36%生理盐水和酪氨酸)的单管渗透压脆弱性作为β地中海贫血特征筛选试验的有效性。结果清楚地表明,0.36%的盐水是最敏感和最有效的解决方案,因为它可以检测出96至100%的β地中海贫血杂合子,而0.32%的盐水和酪氨酸可以检测到80%。然而,在正常受试者中,0.36%的盐水给出了假阳性结果,并且在影响渗透性脆弱性的血液学疾病中也呈阳性。在1371位受试者中更精确地应用了含0.36%盐水的筛选测试。该测试在455名正常受试者中有41名(9.1%)呈假阳性,而在438名确诊患有β地中海贫血的杂合子中,该阳性为431(98%),只有7名(2%)为阴性。还发现该测试在80%的铁缺乏性贫血和α地中海贫血特征的患者,68%的Hb E性状的患者,40%的Hb S性状的患者和78%的杂合子呈阳性罕见的血红蛋白变体。一项针对384名未经筛选的学童的研究也证实,与0.32%的生理盐水和酪氨酸溶液相比,0.36%的生理盐水在检测β地中海贫血性状和其他影响渗透性脆弱性的疾病中的敏感性和有效性得到了提高。

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