Search Results (6)

Sickle cell disease (SCD) is heterogeneous in terms of manifestation severity, even more so when in compound heterozygosity with beta-thalassemia. The aim of the present study was to stratify β^Sβ⁺ patient blood samples in a severity-dependent manner. Blood from thirty-two patients with HbS/β-thalassemia compound heterozygosity was examined for several parameters (e.g., hemostasis, inflammation, redox equilibrium) against healthy controls. Additionally, SCD patients were a posteriori (a) categorized based on the L-glutamine dose and (b) clustered into high-/low-RDW subgroups. The patient cohort was characterized by anemia, inflammation, and elevated coagulation. Higher-dose administration of L-glutamine was associated with decreased markers of inflammation and oxidation (e.g., intracellular reactive oxygen species) and an altered coagulation profile. The higher-RDW group was characterized by increased hemolysis, elevated markers of inflammation and stress erythropoiesis, and oxidative phenomena (e.g., membrane-bound hemoglobin). Moreover, the levels of hemostasis parameters (e.g., D-Dimers) were greater compared to the lower-RDW subgroup. The administration of higher doses of L-glutamine along with hydroxyurea seems to attenuate several features in SCD patients, probably by enhancing antioxidant power. Moreover, anisocytosis may alter erythrocytes’ coagulation processes and hemolytic propensity. This results in the disruption of the redox and pro-/anti-inflammatory equilibria, creating a positive feedback loop by inducing stress erythropoiesis and, thus, the occurrence of a mixed erythrocyte population. Full article

The procedure to diagnose anemia is time-consuming and resource-intensive due to the existence of a multitude of symptoms that can be felt physically or seen visually. Anemia also has several forms, which can be distinguished based on several characteristics. It is possible to diagnose anemia through a quick, affordable, and easily accessible laboratory test known as the complete blood count (CBC), but the method cannot directly identify different kinds of anemia. Therefore, further tests are required to establish a gold standard for the type of anemia in a patient. These tests are uncommon in settings that offer healthcare on a smaller scale because they require expensive equipment. Moreover, it is also difficult to discern between beta thalassemia trait (BTT), iron deficiency anemia (IDA), hemoglobin E (HbE), and combination anemias despite the presence of multiple red blood cell (RBC) formulas and indices with differing optimal cutoff values. This is due to the existence of several varieties of anemia in individuals, making it difficult to distinguish between BTT, IDA, HbE, and combinations. Therefore, a more precise and automated prediction model is proposed to distinguish these four types to accelerate the identification process for doctors. Historical data were retrieved from the Laboratory of the Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia for this purpose. Furthermore, the model was developed using the algorithm for the extreme learning machine (ELM). This was followed by the measurement of the performance using the confusion matrix and 190 data representing the four classes, and the results showed 99.21% accuracy, 98.44% sensitivity, 99.30% precision, and an F1 score of 98.84%. Full article

Luspatercept has been shown to act as a ligand trap, selectively suppressing the deleterious effects of GDF11 that blocks terminal erythroid maturation, restoring normal erythroid differentiation and improving anemia in animal models of β-thalassemia. Effective doses of luspatercept achieved hemoglobin increase within 7 days of the first dose, and plasma half-life supports subcutaneously administration every 21 days in adults with β-thalassemia. A Phase 3, placebo-controlled 1-year study with starting dose of 1.0 up to 1.25 mg/kg every 21 days achieved ≥33% reduction in red cell transfusion volume in 21.4% of adult transfusion-dependent β-, HbE/β-thalassemia patients on luspatercept vs. 4.5% on placebo over a fixed 12-week period, and 41.1% of patients in luspatercept vs. 2.7% placebo in any 24-week period. Luspatercept allowed ≥1.0 and ≥1.5 g/dL increase in hemoglobin from baseline in 77% and 52.1% of adult non-transfusion-dependent β-, HbE/β-thalassemia patients vs. 0% placebo over a 12-week interval. Although not significant, a greater improvement in patient-reported outcomes was observed with luspatercept. Luspatercept had a manageable safety profile with notable adverse effects of venous thromboembolism in 3.6% of transfusion-dependent β-thalassemia vs. 0.9% of placebo and extramedullary hematopoiesis in 6% of non-transfusion-dependent β-thalassemia vs. 2% of placebo. The pediatric study started patients’ enrollment. Full article

Background: People living with transfusion dependent thalassemia have a high risk of becoming infected with COVID-19. This can be caused by both internal factors, namely the formation of alloantibodies and autoimmune disorder, and external factors such as routine visits for blood transfusions. Chronic complications of thalassemia also render them more vulnerable to infectious diseases, including COVID-19. However, anecdotal data shows that thalassemia patients experience less incidence of COVID-19 compared to the general population. Purpose: This study aims to find the correlation between COVID-19 in thalassemia-dependent transfusion patients in Indonesia and Southeast Asia. Patients and Methods: This study used a cross-sectional design. The study was conducted at the Division of Hematology and Medical Oncology of the Cipto Mangunkusumo Hospital in Jakarta from May 2020–August 2021. The total sampling method was used involving all thalassemia major patients who had been infected with COVID-19 (obtained directly from medical record and through the thalassemia patients-parents foundation). Results: From 10,397 patients with thalassemia, 67 (0.64%) people were infected by COVID-19 and 2 (2.9%) were deceased. Meanwhile, the incidence of COVID-19 in the general population of Indonesia was 0.87% (more than in the thalassemia population). This means that thalassemia might provide additional protection against COVID-19 due to several mechanisms. This phenomenon has also been seen in other countries with a high prevalence of thalassemia, wherein there are less COVID-19 cases despite the pandemic. On the contrary, countries with low rates of thalassemia had experienced deadly surges of the pandemic. Conclusion: Indonesia and other countries with a high prevalence of thalassemia have lower COVID-19 incidence than countries with low prevalence of thalassemia. Thalassemia might provide additional protection against COVID-19. Well-designed studies are needed to provide better evidence on the protective effect of thalassemia on COVID-19. Full article

Background and Objectives: Hemoglobin A1c (HbA1c) is widely used for the monitoring and management of diabetes mellitus. The aim of this study is to investigate the influence of hemoglobin (Hb) variants on the measurement of HbA1c. Materials and Methods: HbA1c levels of 845 blood samples obtained from diabetic patients with various hemoglobin types were measured using a turbidimetric inhibition immunoassay and capillary electrophoresis. Results: Of 845 patients with diabetes, 65.7% (555/845) have the normal hemoglobin type (A₂A) and 34.3% (290/845) have various abnormal hemoglobin types, including heterozygous HbE 30.2% (255/845), homozygous HbE 1.9 % (16/845), Hb Constant Spring (CS) trait 1.4% (12/845), CSEA Bart’s 0.2% (2/845), and beta-thalassemia trait 0.6% (5/845). In most of the patients with diabetes, HbA1c levels determined by two different methods, inhibition immunoassay and capillary electrophoresis, gave strong positive correlation (R = 0.901, P < 0.001), except for those with homozygous HbE (N = 16) and CSEA Bart’s (N = 2). In all 18 patients with homozygous HbE and CSEA Bart’s, the HbA1c was undetectable by capillary electrophoresis, meaning that their estimated average glucose was undeterminable, although their HbA1c levels could be measured using an inhibition immunoassay. The discrepancy of HbA1c results obtained from two different methods is noted in patients without HbA. Conclusions: We have demonstrated the erroneous nature of HbA1c measurement in patients with hemoglobin variants, especially in those without HbA expression. Therefore, in the population with a high prevalence of hemoglobinopathies, hemoglobin typing should be considered as basic information prior to HbA1c measurement. Full article

Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. Three types have been defined, based on the degree of reduced beta-globin chain synthesis and clinical phenotype: major, intermedia and minor (heterozygote carrier state). Beta thalassemia intermedia is characterized by heterogeneity for the wide clinical spectrum of various genotypes and a wide range of presentations. The genotypes of beta thalassemia intermedia are much complicated referring to β⁺/β⁺,β⁺/β⁰, Hb E/β⁰, β⁰/β⁰ compounding alpha thalassemia and so on. In this present case, we reported a rare beta thalassemia intermedia genotype of double heterozygosity for poly A (A>G) and CD17(A>T) indicated of β⁺/β⁰ in a Chinese family. Full article