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Prepublished online as a Blood First Edition Paper on March 20, 2003; DOI 10.1182/blood-2002-07-2288. This Article Full Text (PDF) All Versions of this Article: 2002-07-2288v1 102/1/353    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 Vives-Corrons, J.-L. Articles by Beutler, E. B Search for Related Content PubMed PubMed Citation Articles by Vives-Corrons, J.-L. Articles by Beutler, E. B Social Bookmarking                   What's this? Submitted August 19, 2002 Accepted January 16, 2003 Red cell adenylate kinase deficiency. Molecular study of three new mutations (118 GA,190 GA, and GAC deletion) associated with nonspherocytic hemolytic anemia Joan-Lluis Vives-Corrons*, Estefania E Garcia, Joan J Tusell, Kottayil I Varughese, Carol C West, and Enrest B Beutler Red Cell Pathology Unit, Hospital Clinic i Provincial, Barcelona, Spain Haematology Department, Hospital Malerno-Infantil Vall d'Hebron, Barcelona, Spain Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA * Corresponding author; email: jlvives{at}medicina.ub.es. Two patients with chronic nonspherocytic hemolytic anemia (CNSHA) and severe red blood cell(RBC) adenylate kinase (AK) deficiency are reported. One of these patients, a boy of Spanish origin, exhibited a neonatal icterus and splenomegaly and required blood transfusions until the age of two years. The other patient was an infant born of U.S. white first cousins; he also presented with neonatal icterus and anemia. In neither case was psychomotor impairment observed. The first patient was found to be a compound heterozygote for two different missense mutations, c.118 GA (Gly40Arg) and c.190 GA (Gly64Arg).The second patient was homozygous for an in-frame deletion (GAC) from nt 498 to 500 or nt 501 to 503 of the cDNA sequence, predicting deletion of either Asp 140 or 141.The crystal structure of porcine cytosolic AK was used as a molecular model to investigate how these mutations may affect the enzyme structure and function. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: Y.-W. Tan, J. A. Hanson, and H. Yang Direct Mg2+ Binding Activates Adenylate Kinase from Escherichia coli J. Biol. Chem., January 30, 2009; 284(5): 3306 - 3313. [Abstract] [Full Text] [PDF]

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