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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 Nov; 84(11):710-4.AJ

Abstract

We sought to identify mutations that could explain iron phenotype heterogeneity in adults with previous HFE genotyping to detect C282Y and H63D. HEIRS Study participants genotyped for C282Y and H63D were designated as high transferrin saturation (TS) and/or serum ferritin (SF) (high TS/SF), low TS/SF, or controls. We grouped 191 C282Y homozygotes as high TS/SF, low TS/SF, or controls, and 594 other participants by race/ethnicity as high TS/SF or controls. Using denaturing high-performance liquid chromatography (DHPLC), we screened 20 regions of HFE, SLC40A1, HAMP, HJV, TFR2, and FTL in each participant. DHPLC analyses were successful in 99.3% of 791 participants and detected 117 different mutations. In C282Y homozygotes, 4.0% of high TS/SF participants had SLC40A1 Q248H, HAMP -72C>T, or HAMP R59G heterozygosity (0% Controls; P = 0.1200). In whites, 4.1% with high TS/SF and 1.3% of controls had HFE S65C or E168Q (P = 0.3049). HJV c.-6C>G and FTL L55L frequencies were greater in whites with high TS/SF than controls (0.0811 vs. 0.0200, P = 0.0144; 0.5743 vs. 0.4400, P = 0.0204, respectively). One Hispanic with high TS/SF (1.3%) had HAMP G71D heterozygosity. In blacks, SLC40A1 Q248H frequencies did not differ significantly between high TS/SF and control participants. Among Asians, 2.8% with high TS/SF were HFE V295A heterozygotes. Mutations other than HFE C282Y and H63D reported to be pathogenic were infrequently detected in high TS/SF participants. 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.

Authors+Show Affiliations

Southern Iron Disorders Center, Birmingham, Alabama, USA. ironmd@dnamail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19787796

Citation

Barton, James C., 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." American Journal of Hematology, vol. 84, no. 11, 2009, pp. 710-4.
Barton JC, Lafreniere SA, Leiendecker-Foster C, 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(11):710-4.
Barton, J. C., Lafreniere, S. A., Leiendecker-Foster, C., Li, H., Acton, R. T., Press, R. D., & Eckfeldt, J. H. (2009). 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. American Journal of Hematology, 84(11), 710-4. https://doi.org/10.1002/ajh.21524
Barton JC, 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(11):710-4. PubMed PMID: 19787796.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Barton,James C, AU - Lafreniere,Susie A, AU - Leiendecker-Foster,Catherine, AU - Li,Honggui, AU - Acton,Ronald T, AU - Press,Richard D, AU - Eckfeldt,John H, PY - 2009/9/30/entrez PY - 2009/9/30/pubmed PY - 2009/12/31/medline SP - 710 EP - 4 JF - American journal of hematology JO - Am J Hematol VL - 84 IS - 11 N2 - We sought to identify mutations that could explain iron phenotype heterogeneity in adults with previous HFE genotyping to detect C282Y and H63D. HEIRS Study participants genotyped for C282Y and H63D were designated as high transferrin saturation (TS) and/or serum ferritin (SF) (high TS/SF), low TS/SF, or controls. We grouped 191 C282Y homozygotes as high TS/SF, low TS/SF, or controls, and 594 other participants by race/ethnicity as high TS/SF or controls. Using denaturing high-performance liquid chromatography (DHPLC), we screened 20 regions of HFE, SLC40A1, HAMP, HJV, TFR2, and FTL in each participant. DHPLC analyses were successful in 99.3% of 791 participants and detected 117 different mutations. In C282Y homozygotes, 4.0% of high TS/SF participants had SLC40A1 Q248H, HAMP -72C>T, or HAMP R59G heterozygosity (0% Controls; P = 0.1200). In whites, 4.1% with high TS/SF and 1.3% of controls had HFE S65C or E168Q (P = 0.3049). HJV c.-6C>G and FTL L55L frequencies were greater in whites with high TS/SF than controls (0.0811 vs. 0.0200, P = 0.0144; 0.5743 vs. 0.4400, P = 0.0204, respectively). One Hispanic with high TS/SF (1.3%) had HAMP G71D heterozygosity. In blacks, SLC40A1 Q248H frequencies did not differ significantly between high TS/SF and control participants. Among Asians, 2.8% with high TS/SF were HFE V295A heterozygotes. Mutations other than HFE C282Y and H63D reported to be pathogenic were infrequently detected in high TS/SF participants. 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. SN - 1096-8652 UR - https://www.unboundmedicine.com/medline/citation/19787796/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_ L2 - https://doi.org/10.1002/ajh.21524 DB - PRIME DP - Unbound Medicine ER -