Article
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.
Hemoglobin - 1 Jan 2010
Georgel Anne France, Méreau Claude, Willekens Christophe, Bourgeois Emmanuelle, Maboudou Patrice, Crépin Michel, Pissard Serge, Rose Christian
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.