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Prepublished online as a Blood First Edition Paper on August 8, 2002; DOI 10.1182/blood-2002-03-0685. This Article Full Text (PDF) All Versions of this Article: 2002-03-0685v1 100/12/4236    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Cazzola, M. Articles by Bishop, D. F Search for Related Content PubMed PubMed Citation Articles by Cazzola, M. Articles by Bishop, D. F Social Bookmarking                   What's this? Submitted March 5, 2002 Accepted July 9, 2002 Absent phenotypic expression of X-linked sideroblastic anemia in one of two brothers with a novel ALAS2 mutation Mario Cazzola*, Alison May, Gaetano Bergamaschi, Paola Cerani, Sara Ferrillo, and David F Bishop Department of Hematology, University of Pavia Medical School and IRCCS Policlinico S. Matteo, Pavia, Italy * Corresponding author; email: mario.cazzola{at}unipv.it. X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinic acid synthase (ALAS2) gene. Hemizygous males have microcytic anemia and iron overload. A 38-year-old male presented with this phenotype (Hb 7.6 g/dL, MCV 63 fL, serum ferritin 859 µg/L) and molecular analysis of ALAS2 showed a mutation 1731GA predicting an R560H amino acid change. A 36-year-old brother was hemizygous for this mutation and expressed the mutated ALAS2 mRNA in his reticulocytes, but showed almost no phenotypic expression. All five heterozygous females from this family, including the three daughters of the non-anemic hemizygous male, showed marginally increased red-cell distribution width (RDW). Although variable penetrance for XLSA in males has been previously described, this is the first report showing that phenotypic expression can be absent in hemizygous males. This observation is relevant to genetic counseling, emphasizing the importance of gene-based diagnosis. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: P. L. Lee, J. C. Barton, S. V. Rao, R. T. Acton, B. K. Adler, and E. Beutler Three Kinships with ALAS2 P520L Mutations, Two in Association with Severe Iron Overload, and One with Sideroblastic Anemia and Severe Iron Overload. Blood (ASH Annual Meeting Abstracts), November 16, 2005; 106(11): 3723 - 3723. [Abstract] M. Cazzola, R. Invernizzi, G. Bergamaschi, S. Levi, B. Corsi, E. Travaglino, V. Rolandi, G. Biasiotto, J. Drysdale, and P. Arosio Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia Blood, March 1, 2003; 101(5): 1996 - 2000. [Abstract] [Full Text] [PDF]

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