Serum ferritin concentration is affected by ferroportin Q248H mutation in Africans.
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.


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.


CONCLUSIONS
Our study of healthy adults provides further evidence that ferroportin Q248H mutation affects SF concentration in Africans.
Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana. Electronic address: ishmael.kasvosve@mopipi.ub.bw.
Ishmael
I
Kasvosve
Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.
Uyapo
U
Tshwenyego
Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.
Thato
T
Phuthego
Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.
Garesego
G
Koto
Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.
Matshediso
M
Zachariah
Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.
Naledi G
NG
Nyepetsi
Department of Medical Laboratory Sciences, Faculty of Health Sciences, University of Botswana, Gaborone, Botswana.
Modisa S
MS
Motswaledi
D000293:Adolescent; D000328:Adult; D044383:Black People / Q000235:genetics*; D027682:Cation Transport Proteins / Q000097:blood / Q000235:genetics*; D005260:Female; D005293:Ferritins / Q000097:blood*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult; D000098742:Ferroportin
D027682:Cation Transport Proteins; D000098742:Ferroportin; D005293:Ferritins
African blacks; Ferroportin Q248H; Iron status; Polymorphism; Serum ferritin