Background: COVID-19 illness severity ranges from mild- to life-threatening cases necessitating critical care. Rapid prediction of disease severity and the need for critical care support in COVID-19 patients remain essential, not only for current management but also for preparedness in future pandemics. This study aimed to assess hematological parameters as predictors of intensive care unit (ICU) admission and survival in COVID-19 patients, providing insights applicable to a broad range of infectious diseases.
View Article and Find Full Text PDFBackground Hb Adana is a non-deletional alpha (α)-thalassaemia variant resulting from mutations in α1- or α2-globin codon 59 (α), leading to the production of unstable α-globin. Clinical manifestations can vary from silent carrier status to dependence on blood transfusions, hepatosplenomegaly, skeletal deformities, and spinal cord compression. Despite the significance of Hb Adana inheritance, studying this variant poses challenges due to the scarcity of molecular tests and the potential for routine diagnoses to be overlooked.
View Article and Find Full Text PDFBackground Prolonged immobilization is widely recognized as a risk factor for thromboembolism. In this prospective study, we investigated the changes in clot waveform analysis (CWA) parameters in prolonged immobilized patients following lower limb trauma. CWA is an advanced method for assessing global coagulation that involves continuously monitoring changes in light transmittance, absorbance, or light scattering during routine clotting tests.
View Article and Find Full Text PDFObjectives: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy worldwide. The fluorescent spot test (FST) is the conventional method for screening neonates for G6PD. However, it has limitations and quantitative assays such as the CareStart Biosensor 1 are being increasingly recommended.
View Article and Find Full Text PDFObjectives: Hemoglobin constant spring (Hb CS) is a point mutational defect associated with α thalassemia. The aims of this study were to compare the hematological profiles between different Hb CS genotypes and to estimate the range for Zone 2 peak using capillary electrophoresis (CE) with different Hb CS genotypes.
Methods: For this cross-sectional study, patient blood samples that showed a positive peak in zone 2 of CE were selected.
Thalassemia is identified as a prevalent disease in Malaysia, known to be one of the developing countries. Fourteen patients with confirmed cases of thalassemia were recruited from the Hematology Laboratory. The molecular genotypes of these patients were tested using the multiplex-ARMS and GAP-PCR methods.
View Article and Find Full Text PDF(1) Background: Alpha (α)-thalassaemia is a genetic disorder that affects 5% of the world population. Deletional or nondeletional mutations of one or both and on chromosome 16 will result in reduced production of α-globin chains, a component of haemoglobin (Hb) that is required for the formation of red blood cells (RBCs). This study aimed to determine the prevalence, haematological and molecular characterisations of α-thalassaemia.
View Article and Find Full Text PDFThalassemia is one of the most heterogeneous diseases, with more than a thousand mutation types recorded worldwide. Molecular diagnosis of thalassemia by conventional PCR-based DNA analysis is time- and resource-consuming owing to the phenotype variability, disease complexity, and molecular diagnostic test limitations. Moreover, genetic counseling must be backed-up by an extensive diagnosis of the thalassemia-causing phenotype and the possible genetic modifiers.
View Article and Find Full Text PDFThe Diego (Di) blood group system comprises 22 antigens located on the band 3 protein, most of which are low-prevalence antigens. The majority of antibodies to Diego system antigens were of clinically insignificant; however anti-Dia, -Dib, -Wra, -ELO and-DISK may cause hemolytic disease of the fetus and newborn (HDFN) and transfusion reaction. We reported a case of naturally occurring of anti-Dia in a young man who presented to our hospital for wound debridement of fingers injury.
View Article and Find Full Text PDFGlycated hemoglobin (HbA) is used to monitor the long-term management of diabetes and reflects the average blood glucose level over the past three months. Hb J is an alpha-globin gene variant that occurs less commonly but can interfere with the HbA result. This case report presents two cases of abnormally high HbA in patients with Hb J using the high-performance liquid chromatography (HPLC) method and repeated value using the capillary electrophoresis (CE) method.
View Article and Find Full Text PDFThalassemias are monogenic hematologic diseases that are classified as α- or β-thalassemia according to its quantitative abnormalities of adult α- or β-globin chains. β-thalassemia has widely spread throughout the world especially in Mediterranean countries, the Middle East, Central Asia, India, Southern China, and the Far East as well as countries along the north coast of Africa and in South America. The one and the only cure for β-thalassemia is allogenic hematopoietic stem cell transplantations (HSCT).
View Article and Find Full Text PDFJ Pers Med
March 2022
The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic diagnosis, clinical services, and research in low- and middle-income countries. At present, there is no framework to evaluate the improvement of care, treatment, and prevention of thalassaemia and other haemoglobinopathies globally, despite thalassaemia being one of the most common monogenic diseases worldwide. Here, we propose a universally applicable system for evaluating and grouping countries based on qualitative indicators according to the quality of care, treatment, and prevention of haemoglobinopathies.
View Article and Find Full Text PDFPatients with heterozygous β-thalassemia are generally asymptomatic. However, the intermediate phenotype is uncommon, and patients require further investigation to confirm the diagnosis. We describe a 32-year-old woman (gravida 3, para 2) with heterozygous β-thalassemia who presented with symptomatic anemia and had a history of frequent blood transfusion in each pregnancy.
View Article and Find Full Text PDFInt J Environ Res Public Health
October 2021
Blood transfusion is a fundamental and life-saving procedure where the consequence of errors can be fatal. Nurses' knowledge plays an essential role in ensuring quality and safety in blood transfusion. The objective of this study was to assess blood transfusion-associated knowledge of tertiary hospital nurses on the east coast of Malaysia.
View Article and Find Full Text PDFThalassemia, an inherited quantitative globin disorder, consists of two types, α- and -thalassemia. -thalassemia is a heterogeneous disease that can be asymptomatic, mild, or even severe. Considerable research has focused on investigating its underlying etiology.
View Article and Find Full Text PDFHbE/Beta thalassemia (HbE/β-thalassemia) is one of the common genetic disorders in South East Asia. It is heterogeneous in its clinical presentation and molecular defects. There are genetic modifiers which have been reported to influence the disease severity of this disorder.
View Article and Find Full Text PDFBackground: Unsafe blood products may cause transfusion-transmissible infections. This study aimed to evaluate the knowledge and perceptions of blood donors regarding blood safety.
Methods: This was a cross-sectional study conducted in the Kelantan state of Malaysia.
Background: The Malaysian Node of the Human Variome Project (MyHVP) is one of the eighteen official Human Variome Project (HVP) country-specific nodes. Since its inception in 9(th) October 2010, MyHVP has attracted the significant number of Malaysian clinicians and researchers to participate and contribute their data to this project. MyHVP also act as the center of coordination for genotypic and phenotypic variation studies of the Malaysian population.
View Article and Find Full Text PDFThe aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95%) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.
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