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. The samples were repeatedly investigated using the Devyser Thalassemia kit (Devyser, Sweden), a targeted NGS panel targeting the coding regions of hemoglobin genes, namely the HBA1, HBA2, and HBB genes, which were used in this study. There were many different genetic variants found in 14 unrelated cases. Out of all fourteen cases, NGS was able to determine an additional -50 G>A (HBB:c.-100G>A) that were not identified by the multiplex-ARMS method, including HBA2 mutations, namely CD 79 (HBA2:c.239C>G). Other than that, CD 142 (HBA2:c.427T>C) and another non-deletional alpha thalassemia and alpha triplication were also not picked up by the GAP-PCR methods. We illustrated a broad, targeted NGS-based test that proposes benefits rather than using traditional screening or basic molecular methods. The results of this study should be heeded, as this is the first report on the practicality of targeted NGS concerning the biological and phenotypic features of thalassemia, especially in a developing population. Discovering rare pathogenic thalassemia variants and additional secondary modifiers may facilitate precise diagnosis and better disease prevention.

Coronavirus disease 2019 (COVID-19) is a global pandemic. Clinical studies have shown that there was an association between COVID-19 and cardiovascular disease. The virus can directly induce myocardial injury, arrhythmia, acute coronary syndrome, and venous thromboembolism. In Malaysia, students will come back to University soon. The screening techniques framework is required to reduce the pandemic Covid-19 transmission among the students. In this manuscript, we present a new screening technique framework which is consists of temperature and heart rate measurements, movement tracking and risk assessment. Students will be given a questionnaire to stratify their risk into high, medium, and low risk. The temperature will be measured by using an infrared thermometer. The heart rate will be monitored only in those in high and lowrisk categories by using a smart bracelet. The students’ movement will be tracked by using a Wi-Fi based location technique. To avoid any privacy concerns, the location data will be extracted only if the student shared the location with the confirmed COVID-19 case. Lastly, the risk assessment is required in reporting if the infection occurs among students.

The haematology laboratory at Hospital Universiti Sains Malaysia implements sample acceptance and rejection according to the rejection criteria following guidelines by ISO 15189. This study aims to evaluate causes and types of samples rejection and we also introduce an initiative to reduce sample rejection. A 2- month retrospective study was conducted by obtaining and evaluating data from samples sent to the haematology laboratory from June and July 2022. The laboratory received a total of 32,726 samples, out of which 1,084 (3.31%) were rejected. Rejection rates were 3.19% and 3.43% consecutively for June and July 2022. The leading cause of sample rejection was clotted samples (36.6%), followed by duplicate requests (22.9%), and insufficient amounts (16.9%). High sample rejection rates were recorded from the paediatric surgical ward, medical high-dependency unit, and otorhinolaryngology ward. The lowest rejection rate was from the outpatient clinic. The overall sample rejection rate was 3%. Therefore, a few mitigation strategies need to be employed to improve the acceptance rate.

Background: Glycosylated hemoglobin (HbA1c) serves as a crucial biomarker for the diagnosis and monitoring of diabetes. It can be measured via different methods. Interference during analysis can potentially arise from various factors, including rare occurrences such as hyperleukocytosis. Case presentation: Here, we present the case of a 54-year-old male patient with a 20-year history of type 2 diabetes mellitus who complained of prolonged lethargy, epigastric discomfort, and constitutional symptoms of malignancy. Further investigation revealed a diagnosis of T-cell prolymphocytic leukemia accompanied by hyperleukocytosis, indicated by a white cell count of 574.60 x 109/L with predominant lymphocytes. Chemotherapy and tumor lysis syndrome prophylaxis were initiated. During diabetic monitoring, analysis of HbA1c using capillary electrophoresis revealed an absent HbA1c peak; this has not previously been observed. To address this finding, the sample underwent repeated saline washing and centrifugation. Subsequent analysis demonstrated an improvement, with a well-fractionated HbA1c peak present at 8.7% (71 mmol/mol). Various factors can interfere with HbA1c analysis. Drug and hemoglobin variant interference was ruled out following the recovery of the peak post saline washing. The accelerated migration speed of the sample caused by interfering substances in the plasma was postulated to result in a profile shift, leading to the non-recognition of HbA1c fractions. Conclusion: By implementing the important step of washing out interfering molecules, the shift was eliminated, allowing for a true HbA1c level measurement. The appearance of an HbA1c peak post saline wash suggests the presence of endogenous substances that interfere with the assay's analytical method.