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Introduction: The aim of this review is to study the frequency of common and the occurrence of rare and novel mutations of the delta‐globin gene and of Hb Lepore defects that might interfere with thalassemia diagnostics and to report the rationale of HbA2 estimation in the presence of delta‐ or alpha‐gene mutations.
Methods: A total of 135 cases suspected to have a delta‐globin gene defect collected...