Fresh frozen plasma (FFP) is prepared within 8-10 hours after collection to ensure preservation of coagulation factors however, adherence to this time is a challenge. Extended processing time is an option to overcome it. This study was done to evaluate haemostatic proteins after extended time. Methods: Blood collected from a mobile donation centre was divided into three (3) groups before processed into plasma. Group 1 (n=42) was prepared within 8 hours post collection. Group 2 (n=42) was prepared after overnight and stored at room temperature. Group 3 (n=42) was prepared after overnight but stored at 2-6⁰C. Plasma haemostatic proteins were measured in all groups and mean activity of each level was compared using One-way ANOVA. Results: There was no reduction in all the haemostatic proteins in plasma prepared from overnight storage (Groups 2 and 3) compared to Group 1 except for Factors VIII and V whilst PT was not significantly prolonged. aPTT was significantly prolonged in both Groups 2 and 3 compared to Group 1. There were 25.7% and 35.2% reduction of Factor VIII levels in Groups 2 and 3 respectively, however levels were above 60%. There is 8.7% reduction in Factor V level but the mean factor activity was above 90%. Comparing Groups 2 and 3, there was no significant difference in activity of all haemostatic proteins. Conclusions: Haemostatic proteins are preserved in plasma prepared from blood stored overnight. Prolongation of the APTT is reflected by reduction in Factor VIII activity but still within the normal reference range.
Objective: This study aimed to determine the prevalence of anaemia in children aged six months to fifteen years old treated in a single centre from 2008 to 2018. Methods: A retrospective study was conducted among 274 children age six months to fifteen years old, treated in Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia (USM) from 2008 to 2018. The data was obtained from computerised hospital data (CARE2X), Laboratory Information System (LIS) or medical record. Parents of the eligible participants were called for any incomplete data and verbal consents were obtained. Descriptive analysis was conducted to determine the prevalence whereas the relationship between independent variables with types of anaemia were examined using simple logistic regression. Results: The prevalence of anaemia was 22.3%. Among the anaemic children, the predominant morphology form was hypochromic microcytic anaemia (82%) followed with normochromic normocytic anaemia (18%). Iron deficiency anaemia (IDA) was found to be the commonest cause (24%) of hypochromic microcytic anaemia, followed by IDA with concomitant thalassaemia (14%) and thalassaemia alone (8%). In simple logistic regression analysis, no significant association was found. Conclusions: The prevalence of anaemia was 22.3%, which is considered as moderate public health problem according to WHO. Hypochromic microcytic anaemia was the predominant red cell morphology (82%) and IDA was the commonest causes (24%).
Trisomy 8 is a condition where every cell of an individual presents with an extra copy (three copies of chromosome 8. This disorder occurs when a pair of chromosomes fails to divide evenly, which results in cells containing more than two of this chromosome. Here, we report a case of mosaic trisomy 8 in a Malaysian Malay boy.Although patient in this case confirmed with T8M, he exhibited few of the characteristic features that previously were reported to be associated with T8M. However, the patient’s very young age might explain the lack of clinical presentation of these features.
Haemolytic Disease of Foetus and Newborn (HDFN) and Haemolytic Transfusion Reaction (HTR) may occur due to antibodies against Kidd antigen. In Malaysia, the prevalence of RBC alloimmunization due to Kidd antibody for cases of HDFN and HTR have been reported [1-2] however there is insufficient data in Hospital Umum Sarawak (HUS).The aim of this study is to determine whether Kidd alloimmunization causes HDFN and HTR. Indirectly categorize Kidd phenotype blood in regular blood donors.
Photochemical treatment is one of the pathogen inactivation method to treat plasma, part of a proactive approach used for blood and blood component safety. Three photochemical treatments that have been used were methylene blue, riboflavin and psoralen treatment. This study was done on Fresh Frozen Plasma (FFP) to evaluate the treatment effects of psoralen, methylene blue and riboflavin on coagulation factors level. Methods: FFP was collected from apheresis plasma units and kept at 22oC to 24oC. A sum of 90 apheresis plasma units and segments were used, separated from each bag and a part used as controls, placed in a -30oC freezer for storage, thawed, and coagulation proteins function was evaluated before and after treatment, at immediate, 30 days and 270 days storage. Results: Significant differences in fibrinogen and coagulation factor levels between before and after treatment with methylene blue, psoralen and riboflavin. However, most of the mean values in treated plasma were within reference ranges. Methylene blue treated FFP showed the lowest changes in fibrinogen and other coagulation factors level whilst riboflavin treated FFP demonstrated the highest changes in coagulation proteins concentrations especially for fibrinogen, FV, FVIII, FIX and FXII. However, FXIII showed the best recovery for all three photochemical methods with reduction level of 3% to 8% compared to pre-treatment. Storage time comparison of immediate, 30 days and 270 days was inconclusive. Conclusion: The coagulation proteins in psoralen treated FFP and MB-FFP were adequately preserved, where MB-FFP showed better preservation than other two photochemical treatments.
Dengue virus is one of the emerging agents that can be transmitted via blood transfusion from infected blood donors to recipients. In Malaysia, the increase in dengue infection may contribute to the existence of asymptomatic blood donors and increase the risk of blood supply contaminated with this virus. The aims of this study were to investigate the prevalence of NS1 dengue antigen among blood donors and to ascertain the demographic data of blood donors in Penang and and Perak. Methods: A total of 374 voluntary blood donors were recruited from two blood donation campaigns organised by Hospital Pulau Pinang, Penang and Hospital Raja Permaisuri Bainun, Ipoh, Perak from April to May 2016. From each centre, 187 voluntary blood donors were enrolled, blood was collected and Dengue NS1 Ag was screened on all the samples using Platelia dengue antigen test kit from Bio-Rad Laboratories, France. Results: All 374 samples were found to be negative for the Dengue NS1 antigen. Demographic data of these blood donors showed that the most common blood group was O Rh positive, men donated more than women and Chinese blood donors were the biggest group of donors. Conclusion: Even though dengue is endemic in Malaysia, none of the blood donors was screened positive for dengue NS1 antigen in the areas studied. This indicates that none of the blood donor at the time of donation was in viraemia stage. The established donor screening program ensures that the dengue transmission through transfusion is minimal in the areas studied.
Kidd blood group system is distributed differently within populations. In Malaysia, the prevalence of Kidd phenotypes have been reported but not in Hospital Umum Sarawak (HUS).We characterised Kidd phenotypes among regular blood donors in HUS. Methods: A cross-sectional study was done from 1st September 2015 to 10th September 2015. Blood samples were collected from 250 regular blood donors of different ethnicities in HUS. Samples were then investigated for Kidd blood group phenotypes by utilising Seraclon anti-Jka and anti-Jkb reagents employing the Diamed-ID gel card system. Results: Phenotype Jk(a+b+) was found in 110 out of 250 (44.0%) and phenotype Jk (a-b-) phenotype in seven out of 250 (2.8%) blood donors. Jk(a+b-) was detected in 60 out of 250 (24.0%) and Jk(a-b+) in 73 out of 250 (29.2%) donors. Kidd phenotype was detected in four ethnics; Chinese 50.8%, Malays 38.4%, Bidayuh 10.0% and Iban 0.8%. Jk(a-b-) phenotype was present only in the Malays; seven out of 250 (2.8%) but not found in other ethnicities. Conclusion: Jk(a+b+) is the most common Kidd phenotype found in regular blood donors in HUS in the four ethnicities studied. Only Malays exhibit the Jk(a-b-) phenotype which is a rare phenotype. The results of this study may serve as a preliminary database for Kidd blood group profile of regular blood donors in HUS.
Citrate is commonly used as an anti¬coagulant during plateletpheresis procedure. The calcium chelating property of citrate may cause hypocalcaemia when the anticoagulated blood are returned to the donor’s circulation after selective removal of platelet. This study aims at investigating how regular plateletpheresis affects calcium level and bone density in the donors. Methods: A cross-sectional study was conducted among healthy donors at National Blood Centre, Kuala Lumpur, from 15th January till 31st March 2016. Donors were divided into two groups based on the frequency of plateletpheresis donation: low frequency group - donors who had donated less than 20 times, high frequency group - donors who had donated more than 50 times. Dual emission X-ray absorptiometry (DEXA) scan was performed to assess bone density. Pre-donation blood sampling was taken for albumin level. Calcium and magnesium levels were measured before and after donation. Results: Fifty donors participated in this study where the median age of participants was 35.0 years for low frequency and 45.2 years for high frequency group. There was no significant difference in the corrected calcium for both groups before and after plateletpheresis. However, the magnesium levels were significantly reduced in both arms (P
Background: The low yield and quality of buccal-derived genomic DNA have reduced its applicability in various genetic research. The aim of this study was to assess the quantity, purity and genotyping efficiency of genomic DNA isolated from neonatal buccal swabs. Methods: Paired buccal swabs and whole blood samples were collected from 60 neonates with the mean age 5 days (SD=1.57). The genomic DNA quantity and purity were measured by using Infinite® 200 PRO NanoQuant reader and agarose gel electrophoresis. High-resolution melting (HRM) analysis was used to analyse the sequence variants present in uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1 c.211G>A) and nuclear receptor subfamily 1, group I, member 3 (NR1I3 IVS8+116T>G) genes. Results: Buccal swabs provided lower mean genomic DNA concentration (18.78 ± 8.39 ng/μl versus 40.02 ± 13.03 ng/μl), yield (2.63 ± 1.17 μgversus8.00 ± 2.61 μg). The purity of buccal samples however were inconsistent with 16 samples (26.7%) having A260/280 ratios below 1.8 which indicated protein contamination. Genomic DNA purity for all blood samples were within the ideal range with average absorbance ratios of 1.8−2.0. However, all buccal genomic DNA demonstrated 100% genotype call rates for all variants. A complete genotype concordance was also observed between paired genomic DNA samples. Conclusion: Despite related to a reduced quantity and purity, neonatal buccal genomic DNA could generate reliable HRM genotyping results. Therefore, buccal swab collection is a promising alternative to the invasive blood sampling to provide genomic DNA for genetic analysis involving paediatric population.
Emanuel syndrome, also referred to as supernumerary der(22) or t(11;22) syndrome, is a rare genomic syndrome. Patients are normally presented with multiple congenital anomalies and severe developmental disabilities. Affected newborns usually carry a derivative chromosome 22 inherited from either parent, which stems from a balanced translocation between chromosomes 11 and 22. Unfortunately, identification of Emanuel syndrome carriers is diffi- cult as balanced translocations do not typically present symptoms. We identified two patients diagnosed as Emanuel syndrome with identical chromosomal aberration: 47,XX,+der(22)t(11;22)(q24;q12.1)mat karyotype but presenting variable phenotypic features. Emanuel syndrome patients present variable phenotypes and karyotypes have also been inconsistent albeit the existence of a derivative chromosome 22. Our data suggests that there may exist ac- companying genetic aberrations which influence the outcome of Emanuel syndrome phenotypes but it should be cautioned that more patient observations, diagnostic data and research is required before conclusions can be drawn on definitive karyotypic-phenotypic correlations.
Introduction: Rac1 and STIM1 genes are emerging therapeutic targets for cancers. However, their roles in acute my- eloid leukaemia (AML) are not well understood. The goal of this study was to evaluate the effects of dose and time on Rac1 and STIM1 knockdown in the AML cell line model (THP-1 cells). Methods: THP-1 cells were transfected with siRac1 at doses of 50, 100, and 200 nM or dsiSTIM1 at doses of 2, 5, and 10 nM. Expression level of Rac1 and STIM1 then were assessed at time points between 12 and 72 h post-transfection using real-time reverse transcription poly- merase chain reaction. Results: Compared to the control, 87% Rac1 knockdown was attained with 50 nM siRac1 at 24 h post-transfection, and 70% STIM1 knockdown was achieved with 10 nM dsiSTIM1 at 48 h post-transfection. Conclusion: These results show that effective knockdown of Rac1 and STIM1 is possible, and therapy that includes Rac1 and STIM1 inhibitors eventually could provide a new and highly effective strategy for AML treatment.
A 31-year-old lady with normal physical characteristics was found to have persistent high FSH and LH and was suspected possible premature ovarian failure after reported to have not normal menstrual cycle. Leucocytes were collected from patient’s fresh peripheral blood sample and Giemsa banding (G-banding) was done. All metaphases were captured and analysed using Cytovision software 4.5 and the final analysis show 47,XXX.
Advanced parental age is a risk factor for chromosomal abnormalities in their offspring. Trisomy X or Triple X syn- drome has previously been reported with advanced maternal age. Here we report two (2) cases of Trisomy X with paternal age as risk factor. Generally, Trisomy X individuals show variable physical and psychological manifesta- tions. However, both cases reported here have advanced paternal age as a risk factor; 55 years old (46 years old at conception) for Case 1 with patient having right eye squint, beaked nose, Posterior Misalignment Type Ventricular Septal Defect (PMVSD) and small Patent Ductus Arteriosus (PDA) with failure to thrive and 49 years old (45 years old at conception) for Case 2 with speech delay and protruding tongue. In view of that, advanced paternal age could possibly contribute the accumulation of de novo mutations in germ line mosaicism.
Introduction: Transfusion Medicine is an evolving filed which integrates multidisciplinary science in providing safe blood and blood products for patients. With an increasing demand for Transfusion Medicine training in Malaysia, a formal survey is needed to evaluate the postgraduate Transfusion Medicine programme offered by Advanced Med- ical and Dental Institute, Universiti Sains Malaysia to identify areas of deficiency based on the alumni experiences. Methods: An English language survey form was developed specifically to assess the programme contents (overall contents, learning experience in each year, and support in research), the alumni perception on soft-skills gained during the study, and the outcome of the programme. The survey forms were distributed to all alumni between March 2018 and October 2018 via e-mail or hand-delivered. Results: The survey response rate was 79% (37 of 47). A ma- jority (97%) of the transfusion medicine specialists (TMS) in this study reported that the course offered in the program was relevant to their current job. The learning experience which includes course content, student’s placement, facili- ties, and support in research) were rated between satisfactory and good. Communicating effectively through speaking was the highest reported soft-skill gained during the programme, whereas communicating effectively in writing was the lowest soft-skill gained. On the programme outcome, all TMS agreed that this programme will produce qualified and well trained specialists for current working market. Conclusion: Some improvement in the programme contents and teaching activities are needed to equip the future TMS for the nation.
The human leukaemia develops with abnormal increase of blast cells in the bone marrow. Leukaemia is caused by genetic aberrations which activates proto-oncogenes and inactivates tumor-suppressor genes and eventually leads to leukemogenesis. Myelodysplastic syndrome is a preleukemic state which shares similar symptoms and causative factors as leukaemia. FOXO3 and c-Myc have been increasingly recognized as key regulatory genes involved in the initiation and development of leukaemia and myelodysplastic syndromes. Their roles in these diseases is being investigated and findings thus far has indicated that FOXO3 acts as a tumor suppressor while c-Myc has been identified as a proto-oncogene. Currently published literature indicate that there are limited research on the correlation between FOXO3 and c-Myc especially in leukaemia and myelodysplastic syndrome. This review will focus on the key regulatory roles of FOXO3 and c-Myc in leukaemia and myelodysplastic syndrome.
Chromosomal abnormalities (CA) can affect numerical or structural compositions of chromosomosal DNA leading to a diversity of clinical phenotypic presentations. Awareness of prenatal diagnosis and genetic counselling have improved with advancing medical research but CA remain prevalent as its aetiology is unknown. The objective of this study is to determine the frequencies of various CA in the principle region of north-western Malaysia and compare this data to previous reports to ascertain if statistical differences exist. Karyotype analyses performed at the Genetics Laboratory, Advanced Diagnostic Laboratory (ADL) during the first 5-years of cytogenetic services, totalling 1461 cases, were assessed in this report. Cases suspected of CA were initially diagnosed by clinicians and detailed clinical and family histories were recorded. Peripheral blood lymphocytes of patients were collected and cultured in vitro for acquisition of karyotype by standardized G-banding technique. Fluorescence in situ hybridization (FISH) was conducted in cases suspected of to be DiGeorge, Prader-Willi, Angelman and Williams syndrome. Of the total samples (1805) received and cultured, 1669 (92.46%) successfully yielded results. Abnormal outcomes were observed in 495 cases (29.66%) whereby pronounced majority of cases 299 (68.42%) were Down syndrome. This is followed by Edward, Turner and Patau syndrome, in order of frequency. Numerical CA appears to be prevalent accounting for 85.86% of cases. Structural CA accounted for 14.14% of total positive cases whereby the most common was deletions (34.29%) followed by translocations (20%), ring chromosomes (5.71%), Fragile X syndrome (4.29%), duplications (5.71%) and marker chromosomes (7.14%). The remainder of cases (22.86%) consisted of derivative chromosomes and other complex aberrations. The number of polymorphic variant cases were 27 (1.62%). The number of peripheral blood samples received has significantly increased from 14.3 per month in 2006 to 32.17 per month in 2011. Comparative analysis of our study to previous reports reveal statistical differences in the occurrence of several CA including Edward, Patau, Klinefelter and Fragile-X syndrome. Our experience with peripheral blood samples for cytogenetic analysis demonstrated a success rate of 92.46%. This showed an increase in clinicians validating patients’ diagnoses with karyotyping which is essential in confirming genetic anomalies with the goal to substantiate genetic counselling.