Beutler Ernest, Barton James C, Felitti Vincent J, Gelbart Terri, West Carol, Lee Pauline L, Waalen Jill, Vulpe Chris
Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA.
Blood Cells Mol Dis. 2003 Nov-Dec;31(3):305-9. doi: 10.1016/s1079-9796(03)00165-7.
We find that in the Black American population average ferritin levels are higher than those in Whites, both among men and women. African-Americans have an increased prevalence of iron storage disease characterized by prominent iron deposition in macrophages of the liver and other organs. The iron distribution in patients with mutations of the ferroportin gene is similar. A c.744 G-->T (Gln 248 His) mutation was detected among African-Americans at polymorphic frequencies. This variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload.
我们发现，在美国黑人人群中，无论男性还是女性，平均铁蛋白水平均高于白人。非裔美国人中铁储存疾病的患病率增加，其特征是肝脏和其他器官的巨噬细胞中有明显的铁沉积。铁转运蛋白基因突变患者的铁分布情况相似。在非裔美国人中检测到一种多态性频率的c.744 G→T（Gln 248 His）突变。这种变体与非裔美国人中铁蛋白水平升高有关，可能在他们发生铁过载的倾向中起作用。
