β-Thalassemia (β-thal) is a genetic disorder, representing a major health problem in Algeria. It is associated with altered lipid levels and a state of oxidative stress that can lead to cardiac complications and premature death. We examined the plasma lipid profile and redox status of 46 patients with β-thal major (β-TM) and β-thal intermedia (β-TI) compared to 36 healthy subjects. Plasma lipids including total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) were investigated. Oxidative status was evaluated by measuring malondialdehyde (MDA), reduced glutathione (GSH) and catalase (CAT) activity. The potential relationships between these parameters and the hemoglobin (Hb) blood concentrations, serum ferritin, duration and frequency of transfusion, splenectomy as well as age, were examined. Our data indicated that the study patients were under increased state of oxidative stress associated with hypertriglyceridemia, and hypocholesterolemia. The CAT activity was negatively correlated with Hb concentration and LDL-C/TG ratio and positively with years of transfusion. The elevated TC/HDL-C ratio particularly in β-TM patients who were younger, correlated positively with ferritinemia and triglyceride levels and suggested an increased coronary risk. This heightened risk state should lead to the inclusion of this index (TC/HDL-C) in clinical management, particularly in splenectomized patients.

This study concerns the molecular characterization of beta-thalassemia (beta-thal) alleles in 210 chromosomes. In the studied population, mutations were detected in 98% of the beta-thalassemic chromosomes. Twenty-one molecular defects have been found, where the five dominant mutations, IVS-I-110 (G>A), nonsense mutation at codon 39 (C>T), the frameshift codon (FSC) 6 (-A), IVS-I-1 (G>A), and IVS-I-6 (T>C), account for 80% of the independent chromosomes. Among the remaining alleles, 16 different mutations were identified, half of them being described for the first time in Algeria. These include the -101 (C>T) and the -90 (C>T) mutations in the distal and proximal promoter elements, respectively, the FSC 8 (-AA), IVS-I-5 (G>T), IVS-I-128 (T>G), FSC 47 (+A), IVS-II-1 (G>A), and the substitution in the polyadenylation signal (poly A) site AATAAA>AATGAA. Haplotype analyses on rare variants were performed. The possible origin of these mutations either by founder effect or by migrations is discussed, and raises the question of an adequate strategy to be used adapted to socio-economical status.

Introduction : Among genetic diseases in hematology, β Thalassemia ranks second after sickle cell disorders in Algeria. Given the seriousness and cost of the care that arises, a national action plan is needed. As a starting point, a national survey is essential to know the epidemiological situation of this disease. Objective : To determine the soci-demographic, diagnosis and evolution characteristics of major and intermediate thalassemia in Algeria. Materiels and Methods : This is a multicenter, retrospective, analytical study of 775 patients with thalassemia major (TM: 598 cases) and intermediate (TI: 177 cases). This national survey is representative of 21 services (Hematology: 19, Pediatrics: 03). The data was collected from medical records on a survey card distributed to all relevant services. Results : As of January 1, 2017, the prevalence of β Thalassemia estimated from this study is of the order of 3.47 cases per 100 000 inhabitants. The current average age of major thalassemia (MT) is 17.90 years, with extremes of [1-44 years], that of intermediate form (IT) is 23 years old with extremes of [1-61 years], the sex ratio is 1.15. The concept of consanguinity is specified in 499 patients and is present in 49.30% of cases, the geographical origin of patients is variable, 53% are from the center of the country and 43% from the east. The circumstances of the diagnosis are known in 87.25% of subjects, these are clinical symptoms in 93.91% of patients, with an average age at diagnosis of 16.31 months for MT and 5.5 years for IT. The diagnosis is neonatal in only 5.68% of cases. Blood cells transfusion needs are known in 80% of our cohort, 86% receive a systematic and regular diet; 554 patients are on chelation therapy, the main modality being deferoxamine or Deferasirox type monotherapy. 40 MT patients received Hematopoetic Stem Cell Transplantation. The monitoring of iron overload was based mainly on the determination of ferritinemia, only 8.8% of patients received cardiac and hepatic MRI. Various complications associated with iron overload have been reported, the most common being: Hepatic injury (48%), heart disease (36%), diabetes (30%), hypothyroidism (29.17). %), with average ages of onset of 26.67, 18, 19, and 14.50 years, respectively. In addition, viral serology was performed in 536 patients, 64 (11.9%) of whom were carriers of anti-HCV Ab. Conclusion : The quality and life expectancy of thalassemic patients has improved significantly in recent years; complications related to iron overload remain the leading cause of death, the means of evaluation remain insufficient in our country. In addition, the care of our patients must be standardized on the national territory. Disclosures No relevant conflicts of interest to declare.