β⁰‐Thalassemia resulting from a novel mutation: β66/u→stop codon

Long‐term hydroxyurea therapy in beta‐thalassaemia patients

“…The diagnosis of the disease was based on clinical, familial and laboratory data, including electrophoresis on cellulose acetate at pH 8.9 and on agar gel at pH 6.2, and the estimation of HbF and HbA2 (26). The mutations of the β ‐globin gene cluster were detected with the dideoxy chain termination sequencing method (27). The study protocol was in accordance with the Helsinski Declaration of 1975 and was approved by the local Ethics Committee.…”

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

“…Different classes of HBB mutations underlie betathalassemia, in descending order of frequency: missense/nonsense [25,26], splicing [27], regulatory [28], small or gross gene deletions [27,29], including the common deletion of the terminal portion of HBB [30], gene insertions [31], small insertion-deletions [32], and complex rearrangements [33]. In rare instances, the causative defect is due to a deletion of the LCR [18], mutations in another gene within [34] or outside [16] the beta-globin locus.…”

Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child

“…Although data on the extent of the diversity of hemoglobin disorders in Brazil are incomplete (Old, 2003;Zago and Costa, 1985;Fonseca et al, 1998;Araújo et al, 2003), many b-globin mutant alleles have been detected in patients from different Brazilian regions (Araújo et al, 2003;Fonseca et al, 1998;Grignoli et al, 2000).…”