Kasvosve Ishmael, Tshwenyego Uyapo, Phuthego Thato, Koto Garesego, Zachariah Matshediso, Nyepetsi Naledi G, Motswaledi Modisa S
Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.
Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.
Clin Chim Acta. 2015 Apr 15;444:257-9. doi: 10.1016/j.cca.2015.02.037. Epub 2015 Mar 2.
Ferroportin Q248H mutation is common in populations with African ancestry. Studies have reported that the mutation does not alter the ferroportin-hepcidin axis, but there is evidence suggesting that the mutation may lead to hyperferritinemia. We report on the relationship of ferroportin Q248H mutation on serum ferritin (SF) in health adults.
A total of 174 apparently healthy adults from Botswana were studied. SF was measured using an enzyme immunoassay and ferroportin Q248H mutation was identified by polymerase chain reaction and restriction enzyme digestion. Independent sample Mann-Whitney U test was used to correlate the presence of the mutation with SF.
Ferroportin Q248H mutation was identified in 30 individuals (17.2%) (one homozygote, 29 heterozygotes) and was absent in 144 individuals (82.8%), with Q248H allele frequency of 8.9%. In males, SF was significantly higher in ferroportin Q248H heterozygotes compared to wild types, p=0.029, but the relationship between ferroportin Q248H mutation and iron stores was blunted in females.
Our study of healthy adults provides further evidence that ferroportin Q248H mutation affects SF concentration in Africans.
铁转运蛋白Q248H突变在非洲裔人群中很常见。研究报告称该突变不会改变铁转运蛋白-铁调素轴，但有证据表明该突变可能导致高铁蛋白血症。我们报告了健康成年人中铁转运蛋白Q248H突变与血清铁蛋白（SF）之间的关系。
对来自博茨瓦纳的174名表面健康的成年人进行了研究。使用酶免疫测定法测量SF，并通过聚合酶链反应和限制性酶切鉴定铁转运蛋白Q248H突变。采用独立样本曼-惠特尼U检验将突变的存在与SF进行关联。
在30名个体（17.2%）中鉴定出铁转运蛋白Q248H突变（1名纯合子，29名杂合子），144名个体（82.8%）未检测到该突变，Q248H等位基因频率为8.9%。在男性中，铁转运蛋白Q248H杂合子的SF显著高于野生型，p=0.029，但在女性中铁转运蛋白Q248H突变与铁储存之间的关系不明显。
我们对健康成年人的研究进一步证明，铁转运蛋白Q248H突变会影响非洲人的SF浓度。
