title: Mild iron overload in an African American man with SLC40A1 D270V.
abstract: We report on a 46-year-old black man who resided in Alabama with normal transferrin saturation, mild hyperferritinemia, chronic hepatitis C, and 3+ iron in hepatocytes and Kupffer cells. Exome sequencing revealed heterozygosity for SLC40A1 D270V (exon 7, c.809A→T), a mutation previously reported only in 1 black patient with iron overload who resided in the Republic of South Africa. The present patient was also heterozygous for: heme transporter FLVCR1 novel allele P542S (exon 10, 1624C→T); FLVCR1 T544M (rs3207090); hemopexin (HPX) R371W (rs75307540); ferritin scavenger receptor (SCARA5) R471H (rs61737287); and transferrin receptor (TFRC) G420S (rs41295879). He had no HFE, TFR2,HJV, or HAMP mutations. D270V was not detected in 19 other African Americans with iron overload who resided in Alabama. The allele frequency of SLC40A1 D270V in 258 African American adults who participated in a health appraisal clinic was 0.0019 (95% confidence interval 0-0.0057). D270V could explain 'classical' ferroportin hemochromatosis phenotypes in some African Americans.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, University of California-San Diego, La Jolla, CA, USA.
authors.forename: Pauline L
authors.initials: PL
authors.lastname: Lee
authors.forename: Terry
authors.initials: T
authors.lastname: Gaasterland
authors.forename: James C
authors.initials: JC
authors.lastname: Barton
mesh_terms: D001741:Black or African American / Q000235:genetics*; D019943:Amino Acid Substitution; D027682:Cation Transport Proteins / Q000235:genetics*; D005787:Gene Frequency; D019698:Hepatitis C, Chronic / Q000175:diagnosis; D006579:Heterozygote; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014168:Transferrin / Q000032:analysis; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D014168:Transferrin; D000098742:Ferroportin