Three new mutations account for the prevalence of glucose 6 phosphate deshydrogenase (G6PD) deficiency in Tunisia

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

“…Mutation analysis of G6PD revealed that the patient had a novel subtle splice-site mutation (IVS5-1G > A) [60] (Figure 5). In addition, two mutations affecting introns were reported by Bendaou et al [61], where the first was the G6PD mutation IVS-V 655C > T, found in four female subjects with mild deficiency of class III variant. The second mutation affecting the introns was the IVS-VIII 43G > A, found in three male subjects with a mild deficiency of the class III variant.…”

rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients

“…Diagnosis of sickle cell patient was performed using cation-exchange high-performance liquid chromatography (D10, Bio-Rad) and further confirmation by means of molecular diagnosis by restriction fragment length polymorphism using DdeI as previously described by Bendaoud. 15 Biochemical data were averaged for each patient in steady state (at least three values). We determined total and HbF concentrations (D10, Bio-Rad), reticulocyte count, and other hematological parameters using ABX PENTRA 60 C+.…”

The role of rs1984112_G atCD36gene in increasing reticulocyte level among sickle cell disease patients

“…Diagnosis of sickle cell patient is performed using cation-exchange high-performance liquid chromatography (D10 Biorad) and further confirmation by means of molecular diagnosis by restriction fragment length polymorphism using DdeI as previously described by Bendaoud et al [17] The HbA2 analysis is considered the gold standard for diagnosing thalassemia. Hemolytic status including reticulocyte count, lactate dehydrogenase (LDH) and total bilirubin (BT) level and other hematologic parameters were measured for each patient using (Cobras Integra, Meylan, France; ABX pentra 60c+).…”