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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Kasvosve, Ishmael Tshwenyego, Uyapo Phuthego, Thato Koto, Garesego Zachariah, Matshediso Nyepetsi, Naledi G. Motswaledi, Modisa S. |
| Description | Author Affiliation: Kasvosve I ( Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana. Electronic address: ishmael.kasvosve@mopipi.ub.bw.); Tshwenyego U ( Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.); Phuthego T ( Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.); Koto G ( Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.); Zachariah M ( Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.); Nyepetsi NG ( Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.); Motswaledi MS ( Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.) |
| Abstract | BACKGROUND: 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. SUBJECTS AND METHODS: 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. RESULTS: 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. CONCLUSION: Our study of healthy adults provides further evidence that ferroportin Q248H mutation affects SF concentration in Africans. |
| File Format | HTM / HTML |
| ISSN | 00098981 |
| Volume Number | 444 |
| e-ISSN | 18733492 |
| Journal | Clinica Chimica Acta |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2015-04-15 |
| Publisher Place | Netherlands |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Clinical Chemistry Discipline Laboratory Medicine African Continental Ancestry Group Genetics Cation Transport Proteins Ferritins Blood Mutation Adolescent Adult Female Humans Male Middle Aged Young Adult Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry (medical) Clinical Biochemistry Biochemistry |
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