Leiria L B, Roisenberg I, Salzano F M, Bandinelli E
Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Haemophilia. 2009 Jan;15(1):309-13. doi: 10.1111/j.1365-2516.2008.01868.x. Epub 2008 Aug 27.
A total of 107 unrelated severe haemophilia A patients living in the southern Brazilian state of Rio Grande do Sul were studied in relation to the prevalence of inversions present in introns 22 and 1 and a subsample of them (95) tested for the presence of Factor VIII inhibitors. These data were then incorporated with those from 15 other countries and 3871 patients. The frequencies of these two inversions show a remarkable homogeneity in series collected in different continents, from people with diverse ethnic extraction. The prevalence of inhibitors among patients with inversion 22, on the other hand, varies widely (5-51%; seven countries, 1482 patients), the value observed by us being the highest. The importance of obtaining data from patients throughout the world to clarify the aetiology of this important complicating factor in the therapeutics of the disease is emphasized.
对居住在巴西南部南里奥格兰德州的107名无亲缘关系的重度甲型血友病患者进行了研究，以了解内含子22和1中存在的倒位发生率，并对其中一个子样本（95名）进行了因子VIII抑制剂检测。然后将这些数据与来自其他15个国家的3871名患者的数据合并。这两种倒位的频率在来自不同大陆、具有不同种族血统的人群中收集的系列数据中显示出显著的同质性。另一方面，22号倒位患者中抑制剂的发生率差异很大（5%-51%；七个国家，1482名患者），我们观察到的值是最高的。强调了从世界各地患者那里获取数据以阐明该疾病治疗中这一重要复杂因素病因的重要性。
