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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 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 Citation Map 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. Related Collections Red Cells Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 December 2002, Vol. 100, No. 12, pp. 4236-4238 BRIEF REPORT Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation Mario Cazzola, Alison May, Gaetano Bergamaschi, Paola Cerani, Sara Ferrillo, and David F. Bishop From the Department of Hematology and the Department of Internal Medicine and Medical Therapy, University of Pavia Medical School, and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S. Matteo, Pavia, Italy; the Department of Haematology, University of Wales College of Medicine, Cardiff, Wales; and the Department of Human Genetics, Mount Sinai School of Medicine, New York, NY. 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 (hemoglobin [Hb] 7.6 g/dL, mean corpuscular volume [MCV] 64 fL, serum ferritin 859 µg/L), and molecular analysis of ALAS2 showed a mutation 1731G>A predicting an Arg560His 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 5 heterozygous females from this family, including the 3 daughters of the nonanemic 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. © 2002 by The American Society of Hematology.   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]

	Copyright © 2002 by American Society of Hematology         Online ISSN: 1528-0020