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在地中海贫血高发人群中鉴定葡萄糖-6-磷酸脱氢酶缺乏症

Identification of glucose 6-phosphate dehydrogenase deficiency in a population with a high frequency of thalassemia.

作者信息

Tagarelli A, Piro A, Bastone L, Tagarelli G

机构信息

Istituto di Medicina Sperimentale e Biotecnologie-CNR, Contrada Burga, 87050, Mangone, Italy.

出版信息

FEBS Lett. 2000 Jan 21;466(1):139-42. doi: 10.1016/s0014-5793(99)01776-7.

Abstract

High frequencies of both thalassemia trait (5.2%) and glucose 6-phosphate dehydrogenase (G6PD) deficiency for only males (1.3%) have been observed in the Calabrian population. The G6PD activity measurement was carried out on 1239 samples of whole blood from Calabrian subjects of both sexes (age range 10-55) by a differential pH-metry technique which was quite suitable to determine the G6PD deficiency in mass screenings. The analyzed subjects showed: only the thalassemia trait; or only the G6PD deficiency; or only the total iron serum deficiency; or G6PD deficiency associated with the thalassemia trait or with the total iron serum deficiency. The G6PD heterozygous subjects have an enzymatic activity which is masked by both the thalassemia trait and the total iron serum deficiency. In a population showing high frequencies of both thalassemia trait and G6PD deficiency, the comparison of G6PD activity of heterozygous subjects also affected with the thalassemia trait is more reliable if referred to the enzymatic activity of the carriers of the latter inherited anomaly rather than to G6PD activity of normal subjects.

摘要

在卡拉布里亚人群中,观察到地中海贫血特征(5.2%)和仅男性的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症(1.3%)的高发病率。采用一种差异pH测定技术,对1239例来自卡拉布里亚地区不同性别的受试者(年龄范围10 - 55岁)的全血样本进行G6PD活性测定,该技术非常适合在大规模筛查中确定G6PD缺乏症。分析的受试者表现为:仅具有地中海贫血特征;或仅患有G6PD缺乏症;或仅患有血清铁缺乏症;或G6PD缺乏症与地中海贫血特征或血清铁缺乏症相关。G6PD杂合子受试者的酶活性被地中海贫血特征和血清铁缺乏症所掩盖。在一个同时具有高频率地中海贫血特征和G6PD缺乏症的人群中,如果将患有地中海贫血特征的杂合子受试者的G6PD活性与后者遗传异常携带者的酶活性进行比较,而不是与正常受试者的G6PD活性进行比较,会更可靠。

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