Identification of a new mutation on the beta-globin gene: codons 8/9 (+AGAA); GAG.AAG.TCT(Glu-Lys-Ser)>GAG. AAAGAAG, in a patient from the north of France with a phenotype of beta-thalassemia minor.
A 37-year-old man presented a slight debility. The hemogram showed a phenotype of beta-thalassemia minor: Hb (13.1 g/dL), mean corpuscular volume (MCV) (62 fL) with low mean corpuscular hemoglobin (MCH) (20.8 pg), associated with a high level of Hb A(2) of 5.3%. The serum ferritin level was 1,072 ng/mL. The sequencing of the mutated fragment revealed a duplication of four bases of codons 7/8 involving a shift in the open reading frame starting from codon 9 with a TGA stop codon at codon 23: codons 7/8/9 (+AGAA); GAG.AAG.TCT(Gly-Lys-Ser)>GAG.AAAGAAG. The human hemoglobin (Hb) instability tests were negative. The patient did not present the high iron Fe (HFE) mutation (C282Y, H63D). The same mutation was found in five other unrelated families (representing a total of 23 patients). All of their ancestors came from the north of France. This mutation has not been described before and could have its origins in the native populations of Northern France.
Georgel
Anne France
AF
Centre de Compétence Pour la Prise en Charge des Pathologies Erythrocytaires, Pôle de Biochimie et Biologie Moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille (CHRU), Lille, France.
Méreau
Claude
C
Willekens
Christophe
C
Bourgeois
Emmanuelle
E
Maboudou
Patrice
P
Crépin
Michel
M
Pissard
Serge
S
Rose
Christian
C
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D035781:Siblings; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
D003062:Codon; D055544:beta-Globins