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Iron overload in an african american woman with ss hemoglobinopathy and a promoter mutation in the x-linked erythroid-specific 5-aminolevulinate synthase (alas2) gene

Academic Article
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Overview

authors

  • Barton, J. C.
  • Lee, Pauline
  • Bertoli, L. F.
  • Beutler, Ernest

publication date

  • May 2005

journal

  • Blood Cells Molecules and Diseases  Journal

abstract

  • We report the case of an African American woman with sickle cell anemia and iron overload incompletely explained by erythrocyte transfusion who is heterozygous for a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase gene (ALAS2): a C to G transversion at nucleotide -206 from the transcription start site, as defined by primer extension (-258 from the start ATG). This mutation has previously been associated with sideroblastic anemia and iron overload in members of a Welsh kinship. No coding region mutation of HFE, FPN1, TFR2, HAMP, or HJV genes was detected. The mother of the proband has mild, chronic anemia and is also heterozygous for the same proximal promoter region mutation of ALAS2. However, she has no evidence of iron overload. We conclude that an ALAS2 promoter region mutation could partly account for iron overload in the present proband, and that this or other ALAS2 mutations could explain the occurrence of iron overload in other whites or blacks with or without anemia. The occurrence of anemia and iron overload may be discordant in women heterozygous for ALAS2 mutations.

subject areas

  • 5-Aminolevulinate Synthetase
  • Adult
  • African Americans
  • Anemia
  • Anemia, Sickle Cell
  • Family Health
  • Female
  • Heterozygote
  • Humans
  • Iron Overload
  • Point Mutation
  • Promoter Regions, Genetic
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Research

keywords

  • ALAS2
  • African American
  • hemochromatosis
  • iron
  • iron overload
  • mutation
  • promoter
  • sickle cell anemia
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Identity

International Standard Serial Number (ISSN)

  • 1079-9796

Digital Object Identifier (DOI)

  • 10.1016/j.bcmd.2005.01.001

PubMed ID

  • 15885606
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Additional Document Info

start page

  • 226

end page

  • 228

volume

  • 34

issue

  • 3

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