2006-03-01, English, Article, Report edition: Three kinships with ALAS2 P520L (c. 1559 C [right arrow] T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.(Report) Lee, Pauline L.; Barton, James C.; Rao, Sreenivas V.; ...

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Physical Description
  • Report
  • Magazine/​Journal article
Published
  • Elsevier B.V., 2006 March-April
Language
  • English

Edition details

Title
  • Three kinships with ALAS2 P520L (c. 1559 C [right arrow] T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.(Report)
Also Titled
  • Three kinships with ALAS2 P520L (c. 1559 C [right arrow] T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.
Appears In
  • Blood Cells, Molecules and Diseases, v.36, no.2, 2006 March-April, p.292(6) (ISSN: 1079-9796)
Author
  • Lee, Pauline L.
  • Barton, James C.
  • Rao, Sreenivas V.
  • Acton, Ronald T.
  • Adler, Brian K.
  • Beutler, Ernest
Published
  • Elsevier B.V., 2006 March-April
Physical Description
  • Report
  • Magazine/​Journal article
Subjects
Target Audience
  • Academic
Summary
  • To link to full-text access for this article, visit this link: http:/​/​dx.doi.org/​10.1016/​j.bcmd.2005.12.004 Byline: Pauline L. Lee (a), James C. Barton (b)(c), Sreenivas V. Rao (d), Ronald T. Acton (c)(e), Brian K. Adler (b), Ernest Beutler (a) Keywords: Hemochromatosis; Iron overload; X-linked sideroblastic anemia; Modifier; Mutation Abstract: Mutations in aminolevulinate synthase 2 (ALAS2) are usually associated with sideroblastic anemia and iron overload. The objective of this study was to determine if "mild" mutations in ALAS2 might increase the severity of primary iron overload. Direct sequencing of the ALAS2 gene was performed on 24 subjects with primary hemochromatosis and one subject with sideroblastic anemia with severe iron overload. We identified a novel mutation P520L (c. 1559 C [right arrow] T) in ALAS2 in three subjects. Two had severe iron overload and no anemia: one also had HFE C282Y homozygosity, and the other was wildtype for HFE and other iron-related genes. The third subject had sideroblastic anemia with iron overload, and was hemizygous for both P520L and R560H (c. 1679 G [right arrow] A) mutations in ALAS2. The P520L mutation was found at a frequency of 0.0013 (741 alleles) in white control subjects, but was not found in 158 alleles from black control subjects. The proline in this position is highly conserved across species from humans to zebrafish. However, genotype/phenotype studies of the families demonstrate that the P520L mutation alone has no iron-associated phenotype, but it may act as a modifier of iron overload in the presence of mutations in HFE or other uncharacterized hemochromatosis genes. Thus, ALAS2 mutations might contribute to more severe iron loading in persons with primary hemochromatosis. Author Affiliation: (a) The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, MEM 215, La Jolla, CA 92037, USA (b) Southern Iron Disorders Center, Suite G-105 ACC, 2022 Brookwood Medical Center Drive, Birmingham, Alabama 35209, USA (c) Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA (d) Carolina Health Care, 506 East Cheves Street, Florence, SC. 29501, USA (e) Immunogenetics Program and Departments of Microbiology and Epidemiology and International Health, University of Alabama at Birmingham, Birmingham, Alabama, USA Article History: Received 13 December 2005; Revised 13 December 2005 Article Note: (miscellaneous) (Communicated by E. Beutler, M.D., 13 December 2005)
Terms of Use
  • COPYRIGHT 2006 Elsevier B.V.
Language
  • English
Database
  • Gale Academic OneFile
Identifier
  • 194120608

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