Scripps VIVO scripps research logo

  • Index
  • Log in
  • Home
  • People
  • Organizations
  • Research
  • Events
Search form
As of April 1st VIVO Scientific Profiles will no longer updated for faculty, and the link to VIVO will be removed from the library website. Faculty profile pages will continue to be updated via Interfolio. VIVO will continue being used behind the scenes to update graduate student profiles. Please contact helplib@scripps.edu if you have questions.
How to download citations from VIVO | Alternative profile options

Iron overload and prolonged ingestion of iron supplements: Clinical features and mutation analysis of hemochromatosis-associated genes in four cases

Academic Article
uri icon
  • Overview
  • Research
  • Identity
  • Additional Document Info
  • View All
scroll to property group menus

Overview

authors

  • Barton, J. C.
  • Lee, Pauline
  • West, C.
  • Bottomley, S. S.

publication date

  • October 2006

journal

  • American Journal of Hematology  Journal

abstract

  • We evaluated and treated four white adults (one man, three women) who had iron overload associated with daily ingestion of iron supplements for 7, 15, 35, and 61 years, respectively. We performed HFE mutation analysis to detect C282Y, H63D, and S65C in each patient; in two patients, HFE exons were sequenced. In two patients, direct sequencing was performed to detect coding region mutations of TFR2, HAMP, FPN1, HJV, and ALAS2. Patients 1-4 ingested 153, 547, 1,341, and 4,898 g of inorganic iron as supplements. Patient 1 had hemochromatosis, HFE C282Y homozygosity, and beta-thalassemia minor. Patient 2 had spherocytosis and no HFE coding region mutations. Patient 3 had no anemia, a normal HFE genotype, and no coding region mutations in HAMP, FPN1, HJV, or ALAS2; she was heterozygous for the TFR2 coding region mutation V583I (nt 1,747 G-->A, exon 15). Patient 4 had no anemia and no coding region mutations in HFE, TFR2, HAMP, FPN1, HJV, or ALAS2. Iron removed by phlebotomy was 32.4, 10.4, 15.2, and 4.0 g, respectively. There was a positive correlation of log(10) serum ferritin and the quantity of iron removed by phlebotomy (P = 0.0371). Estimated absorption of iron from supplements in patients 1-4 was 20.9%, 1.9%, 1.1%, and 0.08%. We conclude that the clinical phenotypes and hemochromatosis genotypes of adults who develop iron overload after ingesting iron supplements over long periods are heterogeneous. Therapeutic phlebotomy is feasible and effective, and would prevent complications of iron overload.

subject areas

  • Adult
  • Aged
  • Dietary Supplements
  • Drug Administration Schedule
  • Female
  • Genotype
  • Hemochromatosis
  • Histocompatibility Antigens Class I
  • Humans
  • Iron
  • Iron Overload
  • Male
  • Membrane Proteins
  • Mutation
scroll to property group menus

Research

keywords

  • HFE
  • TFR2
  • hemochromatosis
  • iron therapy
  • mutation
  • therapeutic phlebotomy
scroll to property group menus

Identity

International Standard Serial Number (ISSN)

  • 0361-8609

Digital Object Identifier (DOI)

  • 10.1002/ajh.20714

PubMed ID

  • 16838333
scroll to property group menus

Additional Document Info

start page

  • 760

end page

  • 767

volume

  • 81

issue

  • 10

©2022 The Scripps Research Institute | Terms of Use | Powered by VIVO

  • About
  • Contact Us
  • Support