Thalassemia is one of the most common hereditary disorders of the developing world, and it is associated with severe anemia and transfusion dependence. The global health burden of thalassemia has increased as a result of human mobility and migration in recent years. Depending on inherited mutations, thalassemia patients exhibit distorted hemoglobin (Hb) patterns and deviated red cell indices, both of which can be used to support identification by diagnostic tools. Diagnostic approaches vary depending on the target population and the aim of the testing. Current methods, which are based on Hb patterns, are used for first-line screening, whereas molecular testing is needed for conformation of the results and for prenatal and preimplantation genetic diagnosis. In the present paper, we review the diagnostic parameters, pitfalls, interfering factors, and methods; currently available best-practice guidelines; quality assurance and standardization of the procedures; and promising laboratory technologies for the future of thalassemia diagnosis.

β-Thalassemia is the most common inherited disorder in Azerbaijan. The aim of our study was to reveal genotype-to-phenotype correlations of the most common β-thalassemia mutations in an Azerbaijani population. Patients with codon 8 (-AA), IVS-I-6 (T>C), and IVS-II-1 (G>A) mutations, which are reportedly the most common β-globin gene mutations among the local population, were tested for hematologic parameters. Fifty-five previously tested patients with known genotypes were included in the study. Hematologic indices and hemoglobin fractions were tested in order to reveal the phenotypic manifestation of the mutations. The results obtained indicate that clinical presentation varies between different β-globin gene mutations: individuals with IVS-I-6 (T>C) mutations showed milder presentation than those with codon 8 (-AA) and IVS-II-1 (G>A), which is associated with the molecular basis of the mutations. These data can be of assistance to predict clinical presentation and select the best possible therapeutic approach via early genotype identification.

β-Thalassemias are an inherited group of disorders of hemoglobin (Hb) and comprise the most common monogenic disorders in Azerbaijan. They are extremely heterogeneous at the molecular level. Here we report the first identification of a patient who is a compound heterozygote for two rare β-thalassemia (β-thal) mutations, IVS-I-130 (G>C) and codon 37 (TGG>TGA).

No abstract

Background: Hepatitis C virus (HCV) infection is a major cause of liver-related morbidity and mortality among thalassemic patients. Direct-acting antivirals agents (DAAs) are highly effective and well-tolerated by chronic HCV patients. Aims: This study was conducted to evaluate the safety and efficacy of DAAs in treatment of thalassemic patients with chronic HCV. Methods: This prospective study enrolled 22 thalassemic patients with chronic HCV infection proved by positive RT PCR HCV RNA from a total 40 patients who were positive for HCV ELISA test. Severity of liver disease was assessed in all patients. They received treatment of HCV according to guidelines of the National Committee for Control of Viral Hepatitis (NCCVH) in Egypt. About, 16 (72.72%) patients were treated with a sofosbuvir plus daclatasvir, and the other 6 (27.27 %) patients received sofosbuvir plus ledipasvir for 3 months. Primary end point was assessed by achievement of sustained virological response (SVR) at 12 weeks. Secondary end point was assessed by recording any side effects, transfusion requirements if need or stoppage of treatment. Results: The mean age of our patients was 29 years and 50% of them were male. Only 2 (9.09%) of them had compensated cirrhosis. SVR 12 was achieved in all patients (100%). Only one case required treatment discontinuation for one week due to acute kidney injury after prolonged use of NSAIDs then resumed DAAs after decline of creatinine to normal value. The most common side effects were fatigue (18%), progressive anemia (13.63%), requiring blood transfusion that occurred in three of the patients who received sofosbuvir plus daclatasvir, and lastly, headache (4.5%). There was no statistically significant difference in the level of hemoglobin before and after DAAs (8.5 ± 1.34 gm/dl vs 8.6 ± 1.38 gm/dl with p value = 0.484). There was significant improvement of mean ALT values after treatment compared to baseline one (42.45 ± 18.56 vs 57.29 ± 35.07 with p value < 0.0005). Summary/Conclusion: Direct acting antiviral drugs namely sofosbuvir plus daclatasvir or sofosbuvir plus ledipasvir are safe, effective, and well tolerated regimens in thalassemic patients with chronic HCV.