title: Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype.
abstract: A chronic microcytosis and hypochromia without any iron deficiency were observed in an 11-year-old boy of French Caucasian origin. The same hematological findings were also found for his mother. No abnormal hemoglobin (Hb) was detected using isoelectric focusing, cation exchange liquid chromatography and reversed phase liquid chromatography of the globin chains but DNA sequencing revealed a CTG>CCG transition at codon 106 (Leu-->Pro) of the alpha1-globin gene in both of them. As the alpha/beta mRNA ratios, determined by reverse-transcriptase real-time quantitative polymerase chain reaction (PCR), are not concordant with an alpha-thalassemia (alpha-thal) state, we hypothesize that the underlying physiopathologic mechanism is an assembling defect of the Hb Charlieu molecule, rather than an instability of the alpha(Charlieu) mRNA. Moreover, genetic counseling and patient information are required in this family to prevent potentially severe alpha-thalassemias in following generations.
authors.affiliation: Unité de Pathologie Moléculaire du Globule Rouge, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Hospices Civils & Université Claude Bernard-Lyon 1, Lyon Cedex 03, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Anton
authors.initials: A
authors.lastname: Szymanowicz
authors.forename: Marie-Jeanne
authors.initials: MJ
authors.lastname: Neyron
authors.forename: Abdellah
authors.initials: A
authors.lastname: Zine
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D001483:Base Sequence; D002648:Child; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology; D055544:beta-Globins / Q000235:genetics
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins