Purpose: Thalassemia is a major public health concern in Southeast Asia, particularly in Malaysia, where a high carrier rate places significant pressure on healthcare systems. Hereditary Persistence of Fetal Hemoglobin (HPFH) and deltabeta (δβ) thalassemia are genetic conditions associated with elevated levels of fetal hemoglobin (Hb F). This study aimed to determine the frequency of common beta (β)-globin gene cluster deletions among Malaysian carriers of HPFH or δβ thalassemia, while also providing an overview of the thalassemia burden in the region. Methods: A retrospective study was conducted on 534 blood samples submitted to the Institute for Medical Research (IMR), Malaysia, for β-thalassemia genotyping between January 2017 and December 2019. Demographic data, including full blood count parameters and hemoglobin (Hb) analysis, were retrieved. Deoxyribonucleic acid (DNA) was extracted and analyzed using Multiplex Gap-Polymerase Chain Reaction (PCR) to detect large deletions in the β-globin gene cluster. Results: Seven distinct deletions were identified among the 534 heterozygous carriers. The two most common deletions were Gγ(Aγδβ)°-thalassemia Siriraj I (~ 118 kilobase pairs [kb]) and δβ°-thalassemia Thai (~ 12.5 kb), accounting for 30.0% and 29.8% of cases, respectively. The HPFH-6 deletion was observed in 20.0% of cases, followed by  Gγ(Aγδβ)°-thalassemia Asian-Indian Inversion-Deletion (Inv/Del) (14.2%), Gγ(Aγδβ)°-thalassemia Chinese (~ 100 kb) (4.3%), HPFH-3 (0.9%), and  Gγ(Aγδβ)°-thalassemia Asian (~ 49.3 kb) (0.7%). The ethnic distribution showed a predominance among Malay patients (93.4%), with specific deletions suggesting ethnic clustering. Genotype–phenotype analysis revealed notable variations in hematological parameters: carriers of HPFH-3 had the highest Hb F levels (25.3 ± 3.1%) as measured by high-performance liquid chromatography (HPLC) and showed the least severe microcytosis, while carriers of δβ°-thalassemia Thai (~ 12.5 kb) demonstrated more pronounced hematological abnormalities.Findings were consistent with previous reports from Southeast Asia, underscoring the importance of incorporating molecular diagnostics into national screening programs. Although Multiplex Gap-PCR is robust, further studies using Next-Generation Sequencing (NGS) and Multiplex Ligation-dependent Probe Amplification (MLPA) are recommended to detect rare or undetected mutations. Conclusions This study provides crucial data on the molecular spectrum of HPFH and δβ thalassemia in Malaysia, contributing to improved diagnostic strategies and genetic counselling. Future research should explore additional genetic variants to enhance national thalassemia prevention programs.

Introduction: The incidence and complications of hyperlipidemia associated co-morbidities and mortalities are grossly increasing globally. Intervention with natural products preparation has been identified as an alternative for the management of hyperlipidaemia and its related cardiovascular complications. This study investigated the anti-hyperlipidaemic activities of a mixture of Zinger officinale, Allium sativum, Citrus lemon, honey, and Malus domestica vinegar (ZACAH) extracts in in Sprague Dawley (SD) rats fed with high cholesterol diet. Methods: Thirty-six male SD rats were randomly distributed into 6 groups, including normal chow diet-fed (NC), high cholesterol diet (HCD), HCD+ Simvastatin (standard drug) while the remaining three groups were fed with HCD + ZACAH extracts at different doses (1, 3 and 5mg/kg body weight) for 18 weeks. Simvastatin at 10 mg/kg of bodyweight was used as control. High-performance liquid chromatography (HPLC) was used to determine phenolic compounds present in ZACAH extracts, elastase inhibitory assay was determined using spectrometric with a substrate (N-Succ-(Ala)3-pnitroanilide (SANA) while 2,2-diphenyl-1-picrylhydrazyl (DPPH) was performed based by the method described by Blois, 1958. Results: In vitro; ZACAH extracts had oxygen radical absorbance capacity (ORAC) value of 2000 µmol TE/100 mL, total phenolic content (TPC) of 7537 ± 54.5%, DPPH free radical scavenging activity of 27.34 ± 2.71%, elastase inhibitory assay of 29.29 ± 1.65% and lipoxygenase inhibitory assay of 98.58 ± 1.42%. In vivo, ZACAH extracts showed decreased bodyweight, adipose tissue, improved lipid profiles and hepatic biochemical enzymes. Conclusion: These results suggested that ZACAH extracts supplementation improved hyperlipidaemia in SD rats and might be a promising adjuvant for the treatment of hyperlipidaemia.

Introduction: Platelet aggregation test using light transmission aggregometry (LTA) is considered as the gold standard for evaluation of platelet function. Variations of platelet aggregation had been reported in apparently healthy individuals whereby a normal cut–off value established locally is highly recommended. This study aims to determine the platelet aggregation pattern and the preliminary findings on reference values for multiple agonists–induced platelet aggregation among Malaysian healthy individuals in a single centre. Method: A total number of 63 informed consented healthy individuals consisted of Malay, Chinese and Indian were recruited among staff and blood donors at National Blood Centre, Kuala Lumpur. Platelet aggregation was measured using LTA against adenosine diphosphate 10 µM (ADP10), collagen 0.19 mg/mL (COL), ristocetin 1.5 mg/mL (RIS), arachidonic acid 1 mM (AA) and epinephrine 10 µM (EPI). Results were expressed as percent final aggregation (%FA). Reference values were calculated from mean±2SD. Results: Age, gender and ethnic groups had no significant effect on platelet aggregation. A variability of platelet aggregation response to EPI was observed among the healthy individuals. Ten of 33 respondents (30%) had impaired aggregation with <20% FA in response to EPI. The local population showed a slightly higher aggregation pattern in response to COL, RIS, AA and EPI (excluding non-responders) compared to manufacturer’s reference values. Conclusion: This study has provided a glimpse of the aggregation pattern of the local nationality showing considerable differences in the reference values from manufacturer’s; thus highlighting the need of establishing local reference values.

Introduction: Inadequate sleep duration is a modifiable behaviour linked with body weight, yet limited is known on the role of sleep quality with body weight status among university students. The study aimed to determine sleep quality and its association with body weight status among university students. Methods: A crosssectional study was conducted among 240 university students (24.6% males, 75.4% females) with a mean age of 21.22±1.24 years. Subjects were recruited from four faculties of University Putra Malaysia (UPM). Information on socio-demographic, sleep quality and anthropometric measurements were collected. Pittsburgh Sleep Quality Index (PSQI) was used to assess sleep quality, whereby a summation score from seven components yielded a global score on sleep quality, with higher scores indicating poor sleep quality. Results: Majority of subjects were Malay (79.2%) with a mean body mass index of 22.6kg/m2. A majority (61.3%) had normal body weight, with the prevalences of underweight (UW), overweight (OW), and obesity (OB) at 12.9%, 19.6% and 6.3%, respectively. The mean global PSQI score was 5.76±2.64, with half of the respondents (50.4%) experiencing poor sleep quality. OW-OB experienced poorer sleep quality (6.53±2.79, p=0.004) and longer sleep latency (1.34±0.10, p=0.008) relative to UW-NW. OB subjects had substantially more frequent sleep disturbances compared to non-OB subjects (1.53±0.64, p=0.012). Conclusion: Findings suggest that OW-OB students at university are at a greater risk of having reduced sleep quality with longer sleep latency and frequent sleep disturbances. There is a need for a wellness initiative to reduce the incidence of obesity while fostering healthier sleeping habits among university students.

Hb Tak is one of more than 200 high affinity haemoglobin variants reported worldwide. It resultsfrom the insertion of two nucleotides (AC) at the termination codon, between codon 146 and codon147 of the beta-globin gene [Beta 147 (+AC)]. Polycythaemia is the main clinical feature althoughaffected carriers are usually asymptomatic and do not require intervention. Several case studies inthis region have reported the co-inheritance of Hb Tak with Hb E, delta beta and beta thalassaemiawith one case of homozygous Hb Tak in a Thai boy. In this case report, a cluster of haemoglobinTak was found in a family of Malay ethnic origin. Cascade family screening was conducted whileinvestigating a 4-year old girl who presented with symptomatic polycythaemia. She had 2 previousHb analysis done, at 7-month and 2-year-old with the diagnosis of possible Hb Q Thailand andHomozygous Hb D, respectively. Both diagnosis did not fit her clinical presentations. She was plethoric,had reduced exercise tolerance as well as cardiomyopathy. Her parents were consanguineouslymarried and later diagnosed as asymptomatic carriers of Hb Tak. Consequently, re-analysis of thegirl’s blood sample revealed a homozygous state of Hb Tak. In conclusion, high oxygen affinityhaemoglobin like Hb Tak should be considered in the investigation of polycythaemic patients withabnormal Hb analyses. In this case, DNA analysis was crucial in determining the correct diagnosis.

Myelodysplastic syndromes (MDS) are a group of haematological malignancies categorized by ineffective hematopoiesis that result in dysplasia. Although morphological diagnosis is a traditional and standard technique that is used for the diagnosis of MDS, the heterogeneous blood and bone marrow characteristics of MDS patients can potentially obscure the right diagnosis. Thus, we have utilized flow cytometric immunophenotyping as a supportive mechanism to obtain a more accurate and faster method for detection of abnormal markers in MDS. Flow cytometry was used for analyzing bone marrow samples from newly diagnosed MDS patients to investigate the abnormal antigen expression patterns in granulocytic, monocytic, erythroid, lymphoid lineages and myeloid precursors. The results were compared with those obtained from cases that had Idiopathic Thrombocytopenic Purpura (ITP) as a control. The most common abnormality found in the granulocytic lineage was the decrease of CD10. Low expressions of CD13 were the most frequent abnormality in the monocytic lineage. The erythroid lineage was found to have low expression of CD235A+/CD71+, reduce of CD71and decreased CD235a. In conclusion, this method is useful for confirming cases in which it is difficult to make a diagnosis by morphology.