Spectrum of beta thalassemia mutations and HbF levels in the heterozygous Moroccan population

A comprehensive hematological and molecular analysis of 57 p thalassemic heterozygotes, 28 homozygotes, 18 double heterozygotes, 3 compound heterozygotes β thal/β S and one compound heterozygote p thal/Hb Newcastle, in 46 Moroccan families with at least one p thalassemia patient Is reported. Six major mutations: β°39 (C→T), β°FsCDB(-AA), β+lVS1,nt6 (T→C) and β°lVS1,nt1 (G→A), β°FsCD6 (-A) and β+-29 (A→G) cap site account for 75% of the 86 independent p thai chromosomes studied. For the first time, an extensive mutation/haplotype study has been performed on the Moroccan population, and data are consistent with the geographical location of the country and historical links with both the Mediterranean and the Sub-Saharan Africa communities. Despite the heterogeneous spectrum of mutations, good genetic counseling can be offered to the carrier population. This study focuses on the analysis of fetal hemoglobin levels in p thalassemic heterozygotes and its correlation with p globin cluster polymorphic markers in this population