Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS Study initial screening

James C. Barton, Ronald T. Acton, Catherine Leiendecker-Foster, Laura Lovato, Paul C. Adams, John H. Eckfeldt, Christine E. McLaren, Jacob A. Reiss, Gordon D. McLaren, David M. Reboussin, Victor R. Gordeuk, Mark R. Speechley, Richard Press, Fitzroy W. Dawkins

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

There are few descriptions of young adults with self-reported hemochromatosis or iron overload (H/IO). We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25-29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements-, and HFE C282Y and H63D genotypes. We used denaturing high-pressure liquid chromatography and sequencing to detect mutations in HJV, TFR2, HAMP, SLC40A1, and FTL. Fifty-one participants reported previous H/IO; 23 (45%) reported medical conditions associated with H/IO. Prevalences of reports of arthritis, diabetes, liver disease or liver cancer, heart failure, fertility problems or impotence, and blood relatives with H/IO were significantly greater in participants with previous H/IO reports than in those without. Only 7.8% of the 51 participants with previous H/IO reports had elevated TS; 13.7% had elevated SF. Only one participant had C282Y homozygosity. Three participants aged 25-29 years were heterozygous for potentially deleterious mutations in HFE2, TFR2, and HAMP promoter, respectively. Prevalences of self-reported conditions, screening iron phenotypes, and C282Y homozygosity were similar in 1,165 participants aged 30 years or greater who reported previous H/IO. We conclude that persons who report previous H/IO diagnoses in screening programs are unlikely to have H/IO phenotypes or genotypes. Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire.

Original languageEnglish (US)
Pages (from-to)126-132
Number of pages7
JournalAmerican Journal of Hematology
Volume83
Issue number2
DOIs
StatePublished - Feb 2008

Fingerprint

Iron Overload
Hemochromatosis
Transferrin
Ferritins
Iron
Genotype
Phenotype
Mutation
Erectile Dysfunction
Liver Neoplasms
Diagnostic Errors
Arthritis
Fertility
Liver Diseases
Young Adult
Heart Failure
High Pressure Liquid Chromatography
Physicians

ASJC Scopus subject areas

  • Hematology

Cite this

Barton, J. C., Acton, R. T., Leiendecker-Foster, C., Lovato, L., Adams, P. C., Eckfeldt, J. H., ... Dawkins, F. W. (2008). Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS Study initial screening. American Journal of Hematology, 83(2), 126-132. https://doi.org/10.1002/ajh.21053

Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS Study initial screening. / Barton, James C.; Acton, Ronald T.; Leiendecker-Foster, Catherine; Lovato, Laura; Adams, Paul C.; Eckfeldt, John H.; McLaren, Christine E.; Reiss, Jacob A.; McLaren, Gordon D.; Reboussin, David M.; Gordeuk, Victor R.; Speechley, Mark R.; Press, Richard; Dawkins, Fitzroy W.

In: American Journal of Hematology, Vol. 83, No. 2, 02.2008, p. 126-132.

Research output: Contribution to journalArticle

Barton, JC, Acton, RT, Leiendecker-Foster, C, Lovato, L, Adams, PC, Eckfeldt, JH, McLaren, CE, Reiss, JA, McLaren, GD, Reboussin, DM, Gordeuk, VR, Speechley, MR, Press, R & Dawkins, FW 2008, 'Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS Study initial screening', American Journal of Hematology, vol. 83, no. 2, pp. 126-132. https://doi.org/10.1002/ajh.21053
Barton, James C. ; Acton, Ronald T. ; Leiendecker-Foster, Catherine ; Lovato, Laura ; Adams, Paul C. ; Eckfeldt, John H. ; McLaren, Christine E. ; Reiss, Jacob A. ; McLaren, Gordon D. ; Reboussin, David M. ; Gordeuk, Victor R. ; Speechley, Mark R. ; Press, Richard ; Dawkins, Fitzroy W. / Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS Study initial screening. In: American Journal of Hematology. 2008 ; Vol. 83, No. 2. pp. 126-132.
@article{c4bef46589d34e29af9e5b3c8576ca14,
title = "Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS Study initial screening",
abstract = "There are few descriptions of young adults with self-reported hemochromatosis or iron overload (H/IO). We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25-29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements-, and HFE C282Y and H63D genotypes. We used denaturing high-pressure liquid chromatography and sequencing to detect mutations in HJV, TFR2, HAMP, SLC40A1, and FTL. Fifty-one participants reported previous H/IO; 23 (45{\%}) reported medical conditions associated with H/IO. Prevalences of reports of arthritis, diabetes, liver disease or liver cancer, heart failure, fertility problems or impotence, and blood relatives with H/IO were significantly greater in participants with previous H/IO reports than in those without. Only 7.8{\%} of the 51 participants with previous H/IO reports had elevated TS; 13.7{\%} had elevated SF. Only one participant had C282Y homozygosity. Three participants aged 25-29 years were heterozygous for potentially deleterious mutations in HFE2, TFR2, and HAMP promoter, respectively. Prevalences of self-reported conditions, screening iron phenotypes, and C282Y homozygosity were similar in 1,165 participants aged 30 years or greater who reported previous H/IO. We conclude that persons who report previous H/IO diagnoses in screening programs are unlikely to have H/IO phenotypes or genotypes. Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire.",
author = "Barton, {James C.} and Acton, {Ronald T.} and Catherine Leiendecker-Foster and Laura Lovato and Adams, {Paul C.} and Eckfeldt, {John H.} and McLaren, {Christine E.} and Reiss, {Jacob A.} and McLaren, {Gordon D.} and Reboussin, {David M.} and Gordeuk, {Victor R.} and Speechley, {Mark R.} and Richard Press and Dawkins, {Fitzroy W.}",
year = "2008",
month = "2",
doi = "10.1002/ajh.21053",
language = "English (US)",
volume = "83",
pages = "126--132",
journal = "American Journal of Hematology",
issn = "0361-8609",
publisher = "Wiley-Liss Inc.",
number = "2",

}

TY - JOUR

T1 - Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS Study initial screening

AU - Barton, James C.

AU - Acton, Ronald T.

AU - Leiendecker-Foster, Catherine

AU - Lovato, Laura

AU - Adams, Paul C.

AU - Eckfeldt, John H.

AU - McLaren, Christine E.

AU - Reiss, Jacob A.

AU - McLaren, Gordon D.

AU - Reboussin, David M.

AU - Gordeuk, Victor R.

AU - Speechley, Mark R.

AU - Press, Richard

AU - Dawkins, Fitzroy W.

PY - 2008/2

Y1 - 2008/2

N2 - There are few descriptions of young adults with self-reported hemochromatosis or iron overload (H/IO). We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25-29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements-, and HFE C282Y and H63D genotypes. We used denaturing high-pressure liquid chromatography and sequencing to detect mutations in HJV, TFR2, HAMP, SLC40A1, and FTL. Fifty-one participants reported previous H/IO; 23 (45%) reported medical conditions associated with H/IO. Prevalences of reports of arthritis, diabetes, liver disease or liver cancer, heart failure, fertility problems or impotence, and blood relatives with H/IO were significantly greater in participants with previous H/IO reports than in those without. Only 7.8% of the 51 participants with previous H/IO reports had elevated TS; 13.7% had elevated SF. Only one participant had C282Y homozygosity. Three participants aged 25-29 years were heterozygous for potentially deleterious mutations in HFE2, TFR2, and HAMP promoter, respectively. Prevalences of self-reported conditions, screening iron phenotypes, and C282Y homozygosity were similar in 1,165 participants aged 30 years or greater who reported previous H/IO. We conclude that persons who report previous H/IO diagnoses in screening programs are unlikely to have H/IO phenotypes or genotypes. Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire.

AB - There are few descriptions of young adults with self-reported hemochromatosis or iron overload (H/IO). We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25-29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements-, and HFE C282Y and H63D genotypes. We used denaturing high-pressure liquid chromatography and sequencing to detect mutations in HJV, TFR2, HAMP, SLC40A1, and FTL. Fifty-one participants reported previous H/IO; 23 (45%) reported medical conditions associated with H/IO. Prevalences of reports of arthritis, diabetes, liver disease or liver cancer, heart failure, fertility problems or impotence, and blood relatives with H/IO were significantly greater in participants with previous H/IO reports than in those without. Only 7.8% of the 51 participants with previous H/IO reports had elevated TS; 13.7% had elevated SF. Only one participant had C282Y homozygosity. Three participants aged 25-29 years were heterozygous for potentially deleterious mutations in HFE2, TFR2, and HAMP promoter, respectively. Prevalences of self-reported conditions, screening iron phenotypes, and C282Y homozygosity were similar in 1,165 participants aged 30 years or greater who reported previous H/IO. We conclude that persons who report previous H/IO diagnoses in screening programs are unlikely to have H/IO phenotypes or genotypes. Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire.

UR - http://www.scopus.com/inward/record.url?scp=38349106814&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=38349106814&partnerID=8YFLogxK

U2 - 10.1002/ajh.21053

DO - 10.1002/ajh.21053

M3 - Article

VL - 83

SP - 126

EP - 132

JO - American Journal of Hematology

JF - American Journal of Hematology

SN - 0361-8609

IS - 2

ER -