Abstract
Summary We present here the circumstances of discovery of Hb Charlieu, a new alpha-thalassemic hemoglobin variant. The proband is a 12-year-old boy followed at the Roanne's hospital (Loire) for a marked microcytosis with neither anemia nor iron deficiency. As an alpha-thalassemia state is proposed by the child physician, a blood sample is sent to a specialized laboratory at the Edouard-Herriot hospital (Lyon). Despite the normality of the standard phenotypic analysis (cation-exchanged HPLC, isoelectric focalization and reversed-phase HPLC of globin chains), the direct sequencing of the α1 and α2 globin genes detects, at the heterozygous state, a CTG > CCG (Leu > Pro) mutation on codon 106 of the α1 gene. The total absence of phenotypic expression and the associated microcytosis suggest that this new variant is very unstable with a rapid degradation in erythroblasts. This hypothesis will have to be confirmed by the study of the αCharlieu mRNA expression in reticulocytes.
Published Version
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