Determination of glucose-6-phosphate dehydrogenase cut-off values in a Tunisian population.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzymopathy worldwide. The incidence depends essentially on the methods used for the assessment. In this respect, we attempted in this study to set cut-off values of G6PD activity to discriminate among normal, heterozygous, and deficient individuals using the World Health Organization (WHO) classification and the receiver operating characteristics (ROC) curve analysis.

Setup of a Protocol of Molecular Diagnosis of β-Thalassemia Mutations in Tunisia using Denaturing High-Performance Liquid Chromatography (DHPLC).

Backgrounds: β-Thalassemia is one of the most prevalent worldwide autosomal recessive disorders. It presents a great molecular heterogeneity resulting from more than 200 causative mutations in the β-globin gene. In Tunisia, β-thalassemia represents the most prevalent monogenic hemoglobin disorder with 2.

Molecular identification of Gd A- and Gd B- G6PD deficient variants by ARMS-PCR in a Tunisian population.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy. More than 200 mutations in the G6PD gene have been described. In Tunisia, the A-African and the B-Mediterranean mutations predominate the mutational spectrum.

Fortuitous description of haemoglobin A2' [δ16 (A13) Gly→Arg (GGC→CGC)] in a Tunisian family: study of the molecular defect and its origin.

The most common inherited haemoglobin disorders encountered in Tunisia are β-thalassemia and sickle cell disease, which result from mutations in the β-globin gene. Few studies focused on δ-globin gene variations responsible for δ-thalassemia or HbA2 variants. HbA2' [δ16 (A13) Gly→Arg (GGC→CGC)] is a δ-chain variant that has been identified in several populations of African origin.

Red cell indices: differentiation between β-thalassemia trait and iron deficiency anemia and application to sickle-cell disease and sickle-cell thalassemia.

Background: In Tunisia, thalassemia and sickle cell disease represent the most prevalent monogenic hemoglobin disorders with 2.21% and 1.89% of carriers, respectively.

Red cell indices: differentiation between β-thalassemia trait and iron deficiency anemia and application to sickle cell disease and sickle cell thalassemia.

Background: In Tunisia, thalassemia and sickle cell disease (SS) represent the most prevalent monogenic hemoglobin disorders with 2.21% and 1.89% of carriers, respectively.

δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients.

Background: β-Thalassemia is the most common disease among hemoglobinopathies in North African and Arab populations. In the present study we report the first description of the β-Knossos codon27 (G→T) (βKnossos) allele in cis with the δ059 (-A) mutation in thalassemia intermedia patients in Tunisia and Libya.

Methods: This identification was carried out by sequencing analysis of the whole coding regions of the δ- and β-globin genes.

Detection of a novel splicing mutation causing analbuminemia in a Libyan family.

Background And Objectives: Analbuminemia is a very rare autosomal recessive disorder. It is an allelic heterogeneous defect caused by a variety of mutations within the albumin gene. We describe in this report two new cases of analbuminemia in Libyans.