Bhavnani M, Wickham M, Ayyub H, Higgs D R
Department of Haematology, Royal Albert Edward Infirmary, Wigan.
Clin Lab Haematol. 1989;11(4):293-7. doi: 10.1111/j.1365-2257.1989.tb00226.x.
Although it is extremely rare amongst the indigenous population, we have previously identified several British individuals with alpha-thalassaemia. It was to be expected that the underlying molecular defect in these individuals would result from racial admixture; however, we found that many of them share a specific, previously reported determinant of alpha-thalassaemia, referred to as --BRIT (Higgs et al. 1985). Several of these individuals with the --BRIT determinant originated from the North West of England and therefore a more extensive survey of individuals from this area was undertaken. We identified 14 individuals with the --BRIT determinant out of 200,000 individuals studied. These, together with all other known examples bring the total number of cases identified to 36. It seems likely that this almost exclusively British determinant of alpha-thalassaemia (--BRIT) has become established through genetic drift in this population.
虽然在本地人群中极为罕见，但我们之前已鉴定出数名患有α地中海贫血的英国个体。预计这些个体潜在的分子缺陷会源于种族混合；然而，我们发现他们中的许多人共享一种特定的、先前报道过的α地中海贫血决定因素，称为--BRIT（希格斯等人，1985年）。这些带有--BRIT决定因素的个体中有几名来自英格兰西北部，因此对该地区的个体进行了更广泛的调查。在研究的200,000名个体中，我们鉴定出14名带有--BRIT决定因素的个体。这些个体与所有其他已知病例一起，使已鉴定出的病例总数达到36例。这种几乎仅在英国出现的α地中海贫血决定因素（--BRIT）似乎是通过该人群中的基因漂变而确立的。
