Article
Spectrum of beta thalassemia mutations and HbF levels in the heterozygous Moroccan population.
American journal of hematology - 1 Jul 2003
Lemsaddek Wafaa, Picanço Isabel, Seuanes Filomena, Mahmal Lahoucine, Benchekroun Saâd, Khattab Mohammed, Nogueira Paulo, Osório-Almeida Leonor
Abstract excerpt
A comprehensive hematological and molecular analysis of 57 beta thalassemic heterozygotes, 28 homozygotes, 18 double heterozygotes, 3 compound heterozygotes beta thal/beta S and one compound heterozygote beta thal/Hb Newcastle, in 46 Moroccan families with at least one beta thalassemia patient is reported. Six major mutations: beta(0)39 (C-->T), beta(0)FsCD8(-AA), beta(+)IVS1,nt6 (T-->C) and beta(0)IVS1,nt1...
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