The rare codon 24 (T>A) (beta+) mutation in association with the common codon 39 (C> T) (beta0) mutation causes transfusion-dependent beta-thalassemia in a Moroccan patient.
We present the rare codon 24 (T > A) (beta(+)) mutation causing transfusion-dependent beta-thalassemia (beta-thal) in combination with the common codon 39 (C > T) (beta(0)) defect in a Moroccan boy. We report the characterization of the mutation, phenotype, haplotype and possible origin of the first case in Morocco and discuss the significance of this genotype combination with a beta(0) defect.
Agouti
Imane
I
Laboratoire de Biologie Appliquee, Faculte des Sciences et Techniques, Tanger, Maroc. imaneagouti@yahoo.fr
Bennani
Mohcine
M
Levy
Nicolas
N
Giordano
Piero
P
Badens
Catherine
C
D000328:Adult; D001803:Blood Transfusion; D002675:Child, Preschool; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D006239:Haplotypes; D006403:Hematologic Tests; D006801:Humans; D008297:Male; D009018:Morocco / Q000453:epidemiology; D009154:Mutation; D010641:Phenotype; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D003062:Codon; D055544:beta-Globins