Kattamis C, Efremov G, Pootrakul S
J Med Genet. 1981 Aug;18(4):266-70. doi: 10.1136/jmg.18.4.266.
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.
在来自希腊、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%盐水、0.36%盐水和台氏液)的单管渗透脆性试验作为β地中海贫血特征筛查试验的有效性。结果清楚地表明,0.36%盐水是最敏感和有效的溶液,因为它可以检测出96%至100%的β地中海贫血杂合子,而0.32%盐水和台氏液的检测率约为80%。然而,0.36%盐水在正常受试者中给出了假阳性结果,并且在影响渗透脆性的血液系统疾病中也呈阳性。对1371名受试者更精确地应用了0.36%盐水筛查试验。在455名正常受试者中,该试验有41例(9.1%)为假阳性,而在438例确诊的β地中海贫血杂合子中,431例(98%)呈阳性,仅7例(2%)呈阴性。还发现该试验在80%的缺铁性贫血和α地中海贫血特征患者、68%的Hb E特征患者、40%的Hb S特征患者以及78%的罕见血红蛋白变异杂合子中呈阳性。与0.32%盐水和台氏液相比,0.36%盐水在检测β地中海贫血特征和其他影响渗透脆性的疾病方面提高的敏感性和有效性,在一项对384名未挑选的学童的研究中也得到了证实。