SEARCH:   Advanced

This Article Full Text Full Text (PDF) 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 Ribeiro, M. L. Articles by Tamagnini, G. Search for Related Content PubMed PubMed Citation Articles by Ribeiro, M. L. Articles by Tamagnini, G. Related Collections Brief Reports Red Cells Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 August 2000, Vol. 96, No. 4, pp. 1602-1604 BRIEF REPORT Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 Maria Letícia Ribeiro, Nicole Alloisio, Helena Almeida, Clara Gomes, Pascale Texier, Carlos Lemos, Gabriela Mimoso, Laurette Morlé, Faïza Bey-Cabet, René-Charles Rudigoz, Jean Delaunay, and Gabriel Tamagnini From Unidade de Hematologia Molecular, Serviço de Hematologia, Centro Hospitalar de Coimbra, Coimbra, Portugal; Laboratoire de Génétique Humaine, CNRS URA 1171, and Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 5534, Villeurbanne, France; Unidade de Nefrologia, Hospital Pediátrico de Coimbra, Coimbra, Portugal; Maternidade Bissaya Barreto, Centro Hospitalar de Coimbra, Coimbra, Portugal; Service de Biochimie, Hôpital Debrousse, Lyon, France; Service d'Obstétrique, Hôpital de la Croix-Rousse, Lyon, France. Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept alive with respiratory assistance and hypertransfusion therapy. Cord blood smears revealed erythroblastosis, poikilocytosis, and red cells with stalk-like elongations. Band 3 and protein 4.2 were absent; spectrin, ankyrin, and glycophorin A were significantly reduced. Renal tubular acidosis was detected by the age of 3 months. Nephrocalcinosis appeared soon thereafter. After 3 years of follow-up the child is doing reasonably well on a regimen that includes regular blood transfusions and daily bicarbonate supplements. The long-term prognosis remains uncertain given the potential for hematologic and renal complications. © 2000 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: A. M. Toye, R. C. Williamson, M. Khanfar, B. Bader-Meunier, T. Cynober, M. Thibault, G. Tchernia, M. Dechaux, J. Delaunay, and L. J. Bruce Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A Blood, June 1, 2008; 111(11): 5380 - 5389. [Abstract] [Full Text] [PDF] A. C. Fry and F. E. Karet Inherited Renal Acidoses Physiology, June 1, 2007; 22(3): 202 - 211. [Abstract] [Full Text] [PDF] P. A. Stehberger, B. E. Shmukler, A. K. Stuart-Tilley, L. L. Peters, S. L. Alper, and C. A. Wagner Distal Renal Tubular Acidosis in Mice Lacking the AE1 (Band3) Cl-/HCO3- Exchanger (slc4a1) J. Am. Soc. Nephrol., May 1, 2007; 18(5): 1408 - 1418. [Abstract] [Full Text] [PDF] J. Delaunay, A. Toye, R. Williamson, M. Khanfar, B. Bader-Meunier, T. Cynober, M. Thibault, G. J. Tchernia, M. Dechaux, and L. Bruce Band 3 Courcouronne: Homozygous Mutation Ser667Phe Causes Severe Hereditary Spherocytosis and Incomplete Distal Renal Tubular Acidosis. Blood (ASH Annual Meeting Abstracts), November 16, 2006; 108(11): 1563 - 1563. [Abstract] [PDF] A. Pushkin and I. Kurtz SLC4 base (HCO3-, CO32-) transporters: classification, function, structure, genetic diseases, and knockout models Am J Physiol Renal Physiol, March 1, 2006; 290(3): F580 - F599. [Abstract] [Full Text] [PDF] S. L Alper Molecular physiology of SLC4 anion exchangers Exp Physiol, January 1, 2006; 91(1): 153 - 161. [Abstract] [Full Text] [PDF] S. Perrotta, A. Borriello, A. Scaloni, L. De Franceschi, A. M. Brunati, F. Turrini, V. Nigro, E. Miraglia del Giudice, B. Nobili, M. L. Conte, et al. The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function Blood, December 15, 2005; 106(13): 4359 - 4366. [Abstract] [Full Text] [PDF] A. M. Toye, S. Ghosh, M. T. Young, G. K. Jones, R. B. Sessions, M. Ramauge, P. Leclerc, J. Basu, J. Delaunay, and M. J. A. Tanner Protein-4.2 association with band 3 (AE1, SLCA4) in Xenopus oocytes: effects of three natural protein-4.2 mutations associated with hemolytic anemia Blood, May 15, 2005; 105(10): 4088 - 4095. [Abstract] [Full Text] [PDF] N. Rungroj, M. A. J. Devonald, A. W. Cuthbert, F. Reimann, V. Akkarapatumwong, P.-t. Yenchitsomanus, W. M. Bennett, and F. E. Karet A Novel Missense Mutation in AE1 Causing Autosomal Dominant Distal Renal Tubular Acidosis Retains Normal Transport Function but Is Mistargeted in Polarized Epithelial Cells J. Biol. Chem., April 2, 2004; 279(14): 13833 - 13838. [Abstract] [Full Text] [PDF] K. N. Dahl, R. Parthasarathy, C. M. Westhoff, D. M. Layton, and D. E. Discher Protein 4.2 is critical to CD47-membrane skeleton attachment in human red cells Blood, February 1, 2004; 103(3): 1131 - 1136. [Abstract] [Full Text] [PDF] L. J. Bruce, R.-j. Pan, D. L. Cope, M. Uchikawa, R. B. Gunn, R. J. Cherry, and M. J. A. Tanner Altered Structure and Anion Transport Properties of Band 3 (AE1, SLC4A1) in Human Red Cells Lacking Glycophorin A J. Biol. Chem., January 23, 2004; 279(4): 2414 - 2420. [Abstract] [Full Text] [PDF] S. Perrotta, L. Luzzatto, M. Carella, and A. Iolascon Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1 Blood, October 1, 2003; 102(7): 2704 - 2705. [Full Text] [PDF] V. Nicolas, C. Le Van Kim, P. Gane, C. Birkenmeier, J.-P. Cartron, Y. Colin, and I. Mouro-Chanteloup Rh-RhAG/Ankyrin-R, a New Interaction Site between the Membrane Bilayer and the Red Cell Skeleton, Is Impaired by Rhnull-associated Mutation J. Biol. Chem., July 3, 2003; 278(28): 25526 - 25533. [Abstract] [Full Text] [PDF] L. J. Bruce, R. Beckmann, M. L. Ribeiro, L. L. Peters, J. A. Chasis, J. Delaunay, N. Mohandas, D. J. Anstee, and M. J.A. Tanner A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane Blood, May 15, 2003; 101(10): 4180 - 4188. [Abstract] [Full Text] [PDF] L. J. Bruce, S. Ghosh, M. J. King, D. M. Layton, W. J. Mawby, G. W. Stewart, P.-A. Oldenborg, J. Delaunay, and M. J. A. Tanner Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex Blood, August 13, 2002; 100(5): 1878 - 1885. [Abstract] [Full Text] [PDF] G. Garratty, M. J. Telen, and L. D. Petz Red Cell Antigens as Functional Molecules and Obstacles to Transfusion Hematology, January 1, 2002; 2002(1): 445 - 462. [Abstract] [Full Text]

	Blood Online is supported in part by Genentech BioOncology and Biogen Idec
	Copyright © 2000 by American Society of Hematology         Online ISSN: 1528-0020