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.

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.