Genomes and Genes
James C Barton
Affiliation: Southern Iron Disorders Center
- Barton J, Bertoli L, Acton R. HLA-A and -B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama. BMC Med Genet. 2003;4:3 pubmed..The estimated prevalence of CVID and IgGSD in central Alabama could be reasonably attributed to the fact that many HLA haplotypes significantly associated with these disorders are also common in the general population. ..
- Barton J, Bertoli L, Acton R. Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y. Blood Cells Mol Dis. 2003;31:102-11 pubmed..These observations could be explained by the increased frequencies of HLA-A*03-B*07 in C282Y homozygotes and in CVID and IgGSD, and by the common occurrence of putative CVID or IgGSD allele(s) on haplotypes bearing C282Y. ..
- Barton J, Acton R, Rivers C, Bertoli L, Gelbart T, West C, et al. Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. Blood Cells Mol Dis. 2003;31:310-9 pubmed..HFE C282Y, ferroportin 744 G-->T, and common forms of heritable anemia appear to account for increased iron absorption or retention in some patients. ..
- Barton J, Wiener H, Acton R, Go R. HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload. Blood Cells Mol Dis. 2005;34:38-47 pubmed....
- Barton J, Rivers C, Niyongere S, Bohannon S, Acton R. Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population. BMC Med Genet. 2004;5:29 pubmed..HJV I222N and G320V are probably uncommon causes or modifiers of primary iron overload in adult whites and African Americans in Alabama. Double heterozygosity for HJV I222N and HFE C282Y may not promote increased iron absorption. ..
- Barton J, Acton R, Dawkins F, Adams P, Lovato L, Leiendecker Foster C, et al. Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study. Genet Test. 2005;9:231-41 pubmed..Possible explanations for differences in TfSat and SF in whites and blacks and pertinence to the detection of hemochromatosis, iron overload, and other disorders with similar phenotypes are discussed. ..
- Barton J, Acton R, Lovato L, Speechley M, McLaren C, Harris E, et al. Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study. Clin Genet. 2006;69:48-57 pubmed..0001). We conclude that the screening TfSat and SF phenotypes of Native Americans are similar to those of whites. The allele frequencies of HFE C282Y and H63D are significantly lower in Native Americans than in whites. ..
- Barton J, Lee P, West C, Bottomley S. Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases. Am J Hematol. 2006;81:760-7 pubmed..Therapeutic phlebotomy is feasible and effective, and would prevent complications of iron overload. ..
- Barton J, Acton R, Lee P, West C. SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent. Blood Cells Mol Dis. 2007;39:206-11 pubmed..Although OR estimates of iron overload in African-Americans and Native Africans with Q248H were greater than unity, the increased OR were not statistically significant. ..
- Barton J, Lafreniere S, Leiendecker Foster C, Li H, Acton R, Press R, et al. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants. Am J Hematol. 2009;84:710-4 pubmed publisher..Genetic regions in linkage disequilibrium with HJV c.-6C>G and FTL L55L could partly explain high TS/SF phenotypes in whites. Am. J. Hematol., 2009. Published 2009 Wiley-Liss, Inc. ..