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Hemoglobin
international journal for hemoglobin research
Volume 25, 2001 - Issue 3
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Original

A NOVEL SPLICE ACCEPTOR SITE MUTATION OF THE α2-GLOBIN GENE CAUSING α-THALASSEMIA

Nélida I. Noguera Departamento Bioquímica Clínica. Area Hematología, Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Rosario, 2000, Argentina
,
Fernando A. González Hospital Universitario San Carlos, Servicio de Hematología y Hemoterapia, Madrid, 28040, Spain
,
Rubén A. Dávoli Departamento Bioquímica Clínica. Area Hematología, Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Rosario, 2000, Argentina
,
Angela C. Milani Departamento Bioquímica Clínica. Area Hematología, Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Rosario, 2000, Argentina
&
Professor Ana Villegas Hospital Universitario San Carlos, Jefe de Servicio de Hematologia y Hemoterapia, c/Professor Martin Lagos s/n, Madrid, 28040, Spain; Hospital Universitario San Carlos, Servicio de Hematología y Hemoterapia, Madrid, 28040, Spain
Pages 311-315 | Received 07 Dec 2000, Published online: 07 Jul 2009
 
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Abstract

A novel nondeletional α-thalassemia mutation that affects RNA processing, changing the α2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter.

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