title: Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family.
abstract: Hemoglobin (Hb) is the protein responsible for oxygen transportation. It is a tetrameric protein comprising two α- and two β-globin subunits. In the literature, a large number of mutations in the α- and β-globin genes have been documented. Among these mutations, Hb Presbyterian (HBB: c.327 C>G), is a naturally occurring mutant exerting low oxygen affinity. The C to G exchange (AAC>AAG) at codon 108 of the β-globin gene results in the substitution of asparagine by lysine. Here, we document the identification of HBB: c.327 C>G in a 6-year-old female patient and her father from Nicaragua and Cuba, respectively. The presence of the abnormal Hb was confirmed by cellulose acetate electrophoresis, high performance liquid chromatography (HPLC) and genomic DNA sequencing. The β-globin gene sequences for both, father and daughter, disclosed the heterozygous mutation at codon 108 to be Hb Presbyterian or HBB: c.327 C>G. The mutant Hb was previously reported in four families from North America, Germany, Japan and Spain, respectively. This is the fifth family carrying HBB: c.327 C>G described to date and the first report from Latin America.
authors.affiliation: a Molecular Biology Laboratory 'M.A. Elmer Cisneros in Memoriam ', Polytechnic Institute of Health, National Autonomous University of Nicaragua (UNAN) , Managua , Nicaragua.
authors.forename: Allan
authors.initials: A
authors.lastname: Pernudy-Ubau
authors.affiliation: a Molecular Biology Laboratory 'M.A. Elmer Cisneros in Memoriam ', Polytechnic Institute of Health, National Autonomous University of Nicaragua (UNAN) , Managua , Nicaragua.
authors.forename: Jaslyn
authors.initials: J
authors.lastname: Salinas-Molina
authors.affiliation: a Molecular Biology Laboratory 'M.A. Elmer Cisneros in Memoriam ', Polytechnic Institute of Health, National Autonomous University of Nicaragua (UNAN) , Managua , Nicaragua.
authors.forename: Yaneris
authors.initials: Y
authors.lastname: Requenez
authors.affiliation: a Molecular Biology Laboratory 'M.A. Elmer Cisneros in Memoriam ', Polytechnic Institute of Health, National Autonomous University of Nicaragua (UNAN) , Managua , Nicaragua.
authors.forename: Marianela
authors.initials: M
authors.lastname: Ortiz-Lopez
authors.affiliation: a Molecular Biology Laboratory 'M.A. Elmer Cisneros in Memoriam ', Polytechnic Institute of Health, National Autonomous University of Nicaragua (UNAN) , Managua , Nicaragua.
authors.forename: Ann-Christin
authors.initials: AC
authors.lastname: Puller
authors.affiliation: a Molecular Biology Laboratory 'M.A. Elmer Cisneros in Memoriam ', Polytechnic Institute of Health, National Autonomous University of Nicaragua (UNAN) , Managua , Nicaragua.
authors.forename: Kenia
authors.initials: K
authors.lastname: García-Rosales
authors.affiliation: b Department of Hematology , Oncology Children's Hospital Manuel de Jesus Rivera , Managua , Nicaragua.
authors.forename: Anaishelle
authors.initials: A
authors.lastname: Rodríguez-Estrada
authors.affiliation: c Clinical Analysis Department, Section of Heamtology, Faculty of Microbiology , University of Costa Rica , San Jose , Costa Rica.
authors.forename: Walter
authors.initials: W
authors.lastname: Rodríguez-Romero
authors.affiliation: d Central Laboratory of Health , National Autonomous University of Nicaragua (UNAN) , Managua , Nicaragua.
authors.forename: Gerardo
authors.initials: G
authors.lastname: Mejía-Baltodano
authors.affiliation: e Department of Medicine and Hemoglobin Diagnostic Reference Laboratory , Boston University School of Medicine , Boston, MA , USA.
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Luo
authors.affiliation: e Department of Medicine and Hemoglobin Diagnostic Reference Laboratory , Boston University School of Medicine , Boston, MA , USA.
authors.forename: David H K
authors.initials: DHK
authors.lastname: Chui
mesh_terms: D000328:Adult; D000483:Alleles; D002648:Child; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009527:Nicaragua; D010641:Phenotype; D055544:beta-Globins / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C017361:hemoglobin Presbyterian
keywords: DNA sequencing; Hb Presbyterian; unstable hemoglobin (Hb)