Our findings suggest that coinheritance of α-thalassemia or HBS1L-MYB locus variants may affect the clinical severity of Chinese <sup>G</sup>γ<sup>+</sup>(<sup>A</sup>γδβ)<sup>0</sup>-thalassemia.
Higher GM-CSF and IFN-γ response was also found when cells from non-thalassemia people were stimulated with P. insidiosum zoospores compared to thalassemia cells.
Regarding the prevention and control of thalassemias and hemoglobinopathies in the Lao PDR, screening and diagnostic strategies should be strongly considered.
Considering the role of reactive oxygen species (ROS) in the pathophysiology of thalassaemia, we focused on differentially expressed genes involved in metabolic pathways triggered by ROS, such as inflammation and apoptosis, and, from these, we selected the Apurinic/Apyrimidinic Endodeoxyribonuclease 1 (APEX1) and High Mobility Group Box1 (HMGB1) genes, whose role in BT is not well established.
There was an enhanced binding activity of the oligonucleotide probe for Nrf2-driven antioxidant response element (ARE) to nuclear protein from blood mononuclear cells of thalassemia subjects.
Taken together, our findings suggest that dysregulation of miR-144 may play a role in the reduced ability of erythrocyte to deal with oxidative stress and increased RBC hemolysis susceptibility especially in thalassemia.
In addition, 13 genotypes were identified in α-composite β-thalassemia in thalassemia carrier, with the top six genotypes being IVS-2-654/N/-<sup>SEA</sup>/αα (17.86%), CD17/N/-α<sup>3</sup><sup>.</sup><sup>7</sup>/αα (17.86%), IVS-2-654/N/-α<sup>3</sup><sup>.</sup><sup>7</sup>/αα (14.29%), CD41-42/N/-<sup>SEA</sup>/αα (10.71%), CD71-72/N/-α<sup>3</sup><sup>.</sup><sup>7</sup>/αα (7.14%), and Cap/N/-<sup>SEA</sup>/αα (7.14%).
Seventy-one percent of non-sickle cell treatment centres (SCTCs) and 20% of non-thalassemia treatment centres follow NHLBI and TIF recommendations to perform a red blood cell phenotype beyond ABO/Rh(D) and provide Rh and Kell prophylactically matched units for SCD and thalassemia patients, respectively.
In the 106 samples with Hb A<sub>2</sub> 3.1-3.9%, six had HBB mutations; four Hb Dhonburi [codon 126 (T > G)], one CAP site mutation [CAP + 1 (A > C)] and one beta<sup>0</sup>-thalassemia [codon 41/42 (-TTCT)] with a coinherited HBD mutation [nt-77 (T > C)].
Noggin was measured, for the first time in thalassemia patients, at baseline and at 12 months, using a recently developed high sensitivity fluorescent immunoassay.
There was an enhanced binding activity of the oligonucleotide probe for Nrf2-driven antioxidant response element (ARE) to nuclear protein from blood mononuclear cells of thalassemia subjects.
We identified 91 participants with HbSS or SB0 thalassemia 5-21 years of age enrolled in a longitudinal sickle cell nephropathy cohort study who had a cystatin C measured during early childhood (4-10 years of age).
Considering the role of reactive oxygen species (ROS) in the pathophysiology of thalassaemia, we focused on differentially expressed genes involved in metabolic pathways triggered by ROS, such as inflammation and apoptosis, and, from these, we selected the Apurinic/Apyrimidinic Endodeoxyribonuclease 1 (APEX1) and High Mobility Group Box1 (HMGB1) genes, whose role in BT is not well established.
HDAd5/35++ vectors for in vivo gene therapy of thalassemia had a unique capsid that targeted primitive HSPCs through human CD46, a relatively safe SB100X transposase-based integration machinery, a micro-LCR-driven γ-globin gene, and an MGMT(P140K) system that allowed for increasing the therapeutic effect by short-term treatment with low-dose O6-benzylguanine plus bis-chloroethylnitrosourea.
What is New • Quantitative and qualitative analysis of MSF's routine medical data and situtation reports show that one fifth of all consultations in children < 5 years in MSF health facilities in northern Syria 2013-2016 were due to communicable diseases; • The analysis also highlights the burden of chronic conditions that were prevalent in Syria before the war, e.g. thalassemia.
Importantly, haptoglobin and hemopexin were consistently reduced in patients' EVs across all data sets, in keeping with the existing hemolysis that occurs in thalassemia.
Of potential clinical relevance in a region where transfusion-dependent thalassemia is common, we identified two RHCE*02 alleles known to encode an e-variant antigen.
Transfusion combined with chelation therapy for severe β thalassemia syndromes (transfusion-dependent thalassemia [TDT]) has been successful in extending life expectancy, decreasing comorbidities and improving quality of life.
Symptomatic hypoparathyroidism [symptomatic hypocalcemia without elevated serum parathyroid hormone (PTH)] in patients with thalassemia is relatively rare.