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The antiphospholipid syndrome (APS) manifests through venous or arterial thrombosis, with or without pregnancy complication alongside the continuous presence of antiphospholipid antibodies (aPL). APS classification relies on three aPL subtypes: anticardiolipin (aCL), anti-ß2-glycoprotein I antibodies (anti-ß2GPI), and lupus anticoagulants (LA) antibodies. Given that thrombosis and pregnancy issues are not unique to APS, the precise and reliable identification of aPL forms the basis for diagnosis. Semi-quantitative solid-phase assays identify two antibodies, aCL and anti-ß2GPI, while LA detection occurs through various phospholipid-dependent coagulation assays that are based on antibody behaviour. LA, specifically, is conclusively associated with thrombosis, prompting discussions around the serological criteria for APS. Despite advancements in LA detection, the standardisation of all aPL detection assays remains imperative. The combined presence of aCL and anti-ß2GPI with thrombosis inconsistently triggers concern. Initial presentations by APS patients commonly exhibit a heightened risk of stroke, miscarriages in the later stages of pregnancy, positive results of LA tests, and widespread thrombosis across multiple organs, often leading to adverse outcomes. Correctly diagnosing this condition is pivotal to avoid unnecessary long-term secondary thromboprophylaxis.
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Background Hb Adana is a non-deletional alpha (α)-thalassaemia variant resulting from mutations in α1- or α2-globin codon 59 (αCD59), 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. This study aims to investigate the prevalence of Hb Adana among local high school students and assess the hematological parameters and hemoglobin analysis of Hb Adana in Malaysia. Methodology This retrospective study analyzed 13,721 blood samples collected from high school students participating in Malaysia's National Thalassaemia Screening Program at Hospital Raja Perempuan Zainab II (HRPZ II). Deletional α-thalassaemia was detected using multiplex gap-polymerase chain reaction (PCR), while common non-deletional α-thalassaemia was identified using multiplex amplification refractory mutation system (ARMS) PCR. Data were extracted from the HRPZ II database for analysis. Results Among the participants, 2327 individuals were found to have either common deletional (n=1037, 44.6%) or non-deletional (n=1290, 55.4%) α-thalassaemia. Hb Constant Spring was the most prevalent non-deletional α-thalassaemia, accounting for 53.03% of cases. Thirty-one participants (1.33%) exhibited αCD59α/αα, and one (0.04%) had αCD59α/-α3.7. Among the 32 subjects with Hb Adana, 87.5% were Malay, and 12.5% were Orang Asli. Additionally, seven cases of HbE/Hb Adana co-inheritance were identified. Hemoglobin levels in heterozygous Hb Adana individuals ranged from mild anemia to normal, between 95 g/L and 153 g/L. Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were approximately 73 fL and 23 pg, respectively. Conclusion This study delineates the distribution of α-thalassaemia mutation patterns among high school students in Kelantan, Northeast Peninsular Malaysia. Our findings indicate that Hb Adana is rare in our region and co-inheritance with an α-gene deletion results in α+-thalassaemia and with HbE, α0-thalassaemia. All heterozygous Hb Adana individuals exhibited low MCVs and MCHs.
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The human mannose-binding lectin (MBL) gene encodes a polymorphic protein that plays a crucial role in the innate immune response. Human MBL deficiency is associated with immunodeficiencies, and its variants have been linked to autoimmune and infectious diseases. Despite this significance, gene studies concerning MBL sequencing are uncommon in Malaysia. Therefore, we aimed to preliminary described the human MBL sequencing dataset based on the Kelantan population. Blood samples were collected from 30 unrelated individuals and underwent DNA extraction, genotyping, and sequencing. The sequencing data generated 886 bp, which were deposited in GenBank (ON619541-ON619546). Allelic variants were identified and translated into six MBL haplotypes: HYPA, HYPB, LYPB, LXPB, HXPA, and LXPA. An evolutionary tree was constructed using the haplotype sequences. These findings contribute to the expansion of MBL information within the country, providing a valuable baseline for future research exploring the association between the gene and targeted diseases.
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Lectina de Unión a Manosa , Humanos , Haplotipos , Malasia , Lectina de Unión a Manosa/genética , Secuencia de Bases , AlelosRESUMEN
Background Venous thromboembolism (VTE) is a common and potentially life-threatening complication in patients with lower limb traumatic fractures. Orthopaedic patients who experience trauma in the lower limbs with prolonged immobilization may experience a hypercoagulable state, which could eventually lead to the development of VTE. Therefore, this study aims to evaluate the changes in hypercoagulable markers, including haemostatic, inflammatory, and haematological biomarkers in orthopaedic trauma patients with prolonged immobilization. Materials/method This prospective cohort study was conducted at Hospital Universiti Sains Malaysia from August 2020 to March 2022. Every patient with fractures in the lower limbs was screened for eligibility, and patients who required immobilization for more than five days without receiving anticoagulant prophylaxis were recruited for this study. The laboratory tests, including D-dimer, fibrinogen, prothrombin time (PT), activated partial thromboplastin time (aPTT), erythrocyte sedimentation rate (ESR), and platelet count, were serially measured on day one and day five of hospitalization. The biomarkers were analyzed using a paired t-test, with a p-value <0.05 as a significant result. Results A total of 54 patients with fractures in the lower limbs, ages ranging from 12 to 50 years old, were involved in this study. The paired t-test analysis demonstrated that several biomarkers showed a significant increase in mean difference between day one and day five of immobilization, which included fibrinogen, ESR, and platelet count. The mean differences for each biomarker with fibrinogen were 0.66 g/L (p<0.001, 95% CI of mean difference: -1.04, -0.27), ESR increased by 17.98mm/hr (p<0.001, 95% CI of mean difference: -24.69, -11.27), and platelet count increased by 128.59×109/L (p<0.001, 95% CI of mean difference: -166.55, -90.64) on day five of immobilization. D-dimer was elevated in all patients on both post-trauma days; however, no significant difference was observed in this biomarker between day one and day five of immobilization. Conclusion In conclusion, our study found that fibrinogen, ESR, and platelet count levels were significantly increased in orthopaedic trauma patients with prolonged immobilization. The increase in these biomarkers indicates the body's reaction to tissue injury after trauma, which may contribute to the hypercoagulable states. Further research with a larger sample size is warranted to assess the viability of these biomarkers as potential diagnostic indicators for the development of VTE related to hypercoagulability.
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Background 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. Additionally, we also aim to determine the CWA parameters between day one and after day three of immobilization. Methods A total of 30 patients with prolonged immobilization were enrolled in this study. The plasma of these patients was collected on the first day of their admission and subsequently obtained again after day three of immobilization. Prothrombin time (PT)-based CWA and activated partial thromboplastin time (aPTT)-based CWA were performed using the ACL TOP 300 CTS (Werfen: Bedford, USA) coagulation analyzer, which utilizes the optical method for clot detection. Plasma samples for 20 normal controls were recruited from a healthy blood donor. The CWA parameters generated during clot formation were analyzed. For the comparison of CWA parameters between patients with prolonged immobilization and healthy controls, the Mann-Whitney test was used. A paired t-test was used for the comparison of clot wave parameters between day one and after day three of immobilization. This study was approved by the Universiti Sains Malaysia Research Ethics Committee. Result The mean values of PT and aPTT in healthy controls were 11.66 seconds and 33.98 seconds, respectively. There was no statistically significant difference between the patients and the healthy controls in the median values of aPTT (P=0.935). However, patients with prolonged immobilization exhibited significantly higher median PT CWA parameter values than controls (P=0.007). These parameters included the delta change (P<0.001), peak time velocity (P=0.008), and height velocity (P<0.001). On the other hand, the delta change (P<0.001) and height velocity (P<0.001) of the aPTT CWA parameters were significantly higher in patients with prolonged immobilization than in controls. In patients with prolonged immobilization, there was no significant difference in PT CWA parameters between day one and after day three of immobilization, while for aPTT CWA, all parameters were higher on day three, except for the endpoint time. Conclusion Patients with prolonged immobilization exhibit increased PT and aPTT CWA parameters compared to normal controls. CWA parameters could aid in identifying patients at risk of developing thrombosis through changes in the clot waveform. However, further study is needed to fully utilize additional information from routine coagulation testing.
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Immune thrombocytopenia (ITP) has been comprehensively studied and understood in Western Europe and various Asia-Pacific regions. However, the epidemiological and clinical-laboratory aspects of ITP in Malaysia remain limited and not well documented. Therefore, this study aims to evaluate the incidence and clinical parameters of ITP using 20-year retrospective data. Medical records for 205 consecutive adult patients with ITP between January 2000 and December 2022 were analyzed. A p-value of <0.05 is considered statistically significant. The majority were Malays (n=192, 93.7%) and females (n=150, 73.2%), with a male-to-female ratio of 1:2.73. One hundred thirty-two (64.4%) and 73 (35.6%) patients were diagnosed with primary ITP (pITP) and secondary ITP (sITP), respectively. Systemic lupus erythematosus (SLE) (n=23, 35.9%), antiphospholipid syndrome (APS) (n=5, 7.8%), and familial thrombocytopenia (n=5, 7.8%) were the top 3 comorbid conditions for ITP. The overall incidence was 1.80/100,000 person-years (95% confidence interval (CI): 1.56-2.07), and the incidences were higher in females than in males with pITP (1.78/100,000 person-years versus 0.70/100,000 person-years) and sITP (0.86/100,000 person-years versus 0.26/100,000 person-years). The median age for patients with pITP was significantly higher than for those with sITP (median: 44 versus 37 years, respectively) (p=0.026). However, there was no statistically significant difference in white blood cell (WBC) counts, hemoglobin (HB) counts, platelet (PLT) counts, absolute neutrophil counts (ANC), or hematocrit (HCT) counts between those with pITP and sITP at the time of diagnosis. The current study provides an overview of ITP epidemiology in northeastern Malaysia. We emphasize the critical need for further additional research, particularly at the state and national levels in the future.
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Introduction Platelet additive solutions (PASs) are nutrient media commonly used to replace and reduce the need for storage plasma. They are an alternative medium to maintain high-quality platelets lasting longer on the shelf for about seven days. Platelets with high titer of ABO antibody can pose a hemolytic transfusion reaction (HTR) risk if units are given across the ABO barrier. The risk of complication is greater when group O platelet is released to non-group O patients. The PAS has been known as a safe medium, where the titer of ABO antibodies is expected to be diluted. In this study, we compared the anti-A and anti-B antibody titers of apheresis platelets in PAS and non-PAS (plasma) as the suspending media. Methods A total of 20 apheresis platelet donors were selected, with seven from blood group A, eight from blood group B, and five from blood group O. The platelets were collected using an Amicus cell separator. They were suspended in PAS and plasma before being stored at a temperature range of 22-24º C. Anti-A (blood group B and O) and Anti-B (blood group A and O) antibody titers were measured and compared between the two suspending media. Wilcoxon signed-rank test is used for statistical analysis, and a p-value <0.05 is considered significant. Results The median titer of the anti-A antibody of apheresis platelets showed a significant difference between suspended in PAS (2.50) and plasma (4.00), p=0.002. Similar findings were also seen with the median titer of the anti-B antibody of apheresis platelet, in which it showed a significant difference between suspended in PAS (2.00) and plasma (4.00), p=0.004. It was observed that there was a significant reduction in both anti-A and anti-B antibody titers in the PAS as compared to the plasma group. Conclusion The decrease in ABO antibody titer in apheresis platelets stored with PAS can be beneficial for patients. This reduces the risk of HTRs if ABO-incompatible platelet units need to be issued. Thus, using PAS as a storage medium significantly improves platelet inventory management without compromising patient safety.
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Objectives: 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. Hemoglobin and DNA of the samples were investigated to ascertain the presence and levels of non-deletional and deletional α thalassemia. The results were statistically analyzed. Results: Of the 137 samples investigated, 118 (86.1%) were positive for termination codon Hb CS mutation. Heterozygous Hb CS was found in 92 (67.2%), compound heterozygous Hb CS in 22 (16.1%), and homozygous Hb CS in four (2.9%) samples. The ranges of Hb CS level for heterozygous Hb CS, compound heterozygous Hb CS, and homozygous Hb CS were within 0.2-2.7%, 0.3-2.2%, and 4.5-5.5%, respectively. Significant hematological differences in the Hb level, mean cell volume, mean cell hemoglobin, red cell distribution width, red blood cell count, and Hb CS level were observed between heterozygous, homozygous, and compound heterozygous Hb CS. Conclusions: In view of the overlapping prevalence range of Hb CS level for heterozygous and compound heterozygous Hb CS, only Hb CS level within the range 4.5-5.5% was helpful in the diagnosis of homozygous Hb CS.
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(1) Background: Alpha (α)-thalassaemia is a genetic disorder that affects 5% of the world population. Deletional or nondeletional mutations of one or both HBA1 and HBA2 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. (2) Method: The parameters were based on full blood count, high-performance liquid chromatography and capillary electrophoresis. The molecular analysis involved gap-polymerase chain reaction (PCR), multiplex amplification refractory mutation system-PCR, multiplex ligation-dependent probe amplification and Sanger sequencing. (3) Results: With a total cohort of 131 patients, the prevalence of α-thalassaemia was 48.9%, leaving the remaining 51.1% with potentially undetected α gene mutations. The following genotypes were detected: -α3.7/αα (15.4%), -α4.2/αα (3.7%), --SEA/αα (7.4%), αCSα/αα (10.3%), αAdanaα/αα (0.7%), αQuong Szeα/αα (1.5%), -α3.7/-α3.7 (0.7%), αCSα/αCSα (0.7%), -α4.2/αCSα (0.7%), -SEA/αCSα (1.5%), -SEA/αQuong Szeα (0.7%), -α3.7/αAdanaα (0.7%), --SEA/-α3.7 (2.2%) and αCSα/αAdanaα (0.7%). Indicators such as Hb (p = 0.022), mean corpuscular volume (p = 0.009), mean corpuscular haemoglobin (p = 0.017), RBC (p = 0.038) and haematocrit (p = 0.058) showed significant changes among patients with deletional mutations, but not between patients with nondeletional mutations. (4) Conclusions: A wide range of haematological parameters was observed among patients, including those with the same genotype. Thus, a combination of molecular technologies and haematological parameters is necessary for the accurate detection of α-globin chain mutations.
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Thalassemia 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. Data coming from advanced molecular techniques such as targeted sequencing by next-generation sequencing (NGS) and third-generation sequencing (TGS) are more appropriate and valuable for DNA analysis of thalassemia. While NGS is superior at variant calling to TGS thanks to its lower error rates, the longer reads nature of the TGS permits haplotype-phasing that is superior for variant discovery on the homologous genes and CNV calling. The emergence of many cutting-edge machine learning-based bioinformatics tools has improved the accuracy of variant and CNV calling. Constant improvement of these sequencing and bioinformatics will enable precise thalassemia detections, especially for the CNV and the homologous HBA and HBG genes. In conclusion, laboratory transiting from conventional DNA analysis to NGS or TGS and following the guidelines towards a single assay will contribute to a better diagnostics approach of thalassemia.
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Acute hemolytic transfusion reaction following ABO-incompatible platelet transfusion: two case reports An ideal platelet transfusion should provide ABO identical platelet concentrate, and cross match compatibility is not routinely performed in the standard practices. However, ABO non identical platelet transfusions are not uncommon with the limited resources and short shelf life of platelet concentrate. Though rare, acute hemolytic transfusion reaction (AHTR) may occur following minor ABO-incompatible platelet transfusion. Here, we report two cases of thrombocytopenic patients (one child and one adult) type as Group B RhD positive and received Group O RhD positive platelet transfusions. Both patients experienced an AHTR evidenced by a drop in hemoglobin level, spherocytosis and small agglutinations on the blood film, and positive direct Coombs test. They were treated symptomatically, recovered and discharged well post-event without any morbidity. No anti-B isohemagglutinins titer were done to confirm the high titer of the antibody in the platelet donors. Our cases highlighted the importance of ABO-compatible platelet transfusion, especially to children and those vigilant groups of patients.
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Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Reacción a la Transfusión , Adulto , Niño , Humanos , Transfusión de Plaquetas/efectos adversos , Plaquetas , Incompatibilidad de Grupos Sanguíneos , Tipificación y Pruebas Cruzadas Sanguíneas , Anticuerpos , Sistema del Grupo Sanguíneo ABORESUMEN
Venous thromboembolism (VTE), which encompasses deep venous thrombosis (DVT) and pulmonary embolism (PE), is a major public health concern due to its high incidences of morbidity and mortality. Patients who have experienced trauma with prolonged immobilization are at an increased risk of developing VTE. Plasma D-dimer levels have been known to be elevated in trauma patients, and they were closely correlated with the number of fractures. In other words, plasma D-dimer levels cannot be used as the only indicator of VTE in trauma cases. Given the limitations, further study is needed to explore other potential biomarkers for diagnosing VTE. To date, various established and novel VTE biomarkers have been studied in terms of their potential for predicting VTE, diagnostic performance, and improving clinical therapy for VTE. Therefore, this review aims to provide information regarding classic and essential haemostasis (including prothrombin time (PT), activated partial thromboplastin time (aPTT), D-dimer, fibrinogen, thrombin generation, protein C, protein S, antithrombin, tissue factor pathway inhibitor, and platelet count) and inflammatory biomarkers (C-reactive protein, erythrocyte sedimentation rate, and soluble P-selectin) as potential diagnostic biomarkers that can predict the risk of VTE development among trauma patients with prolonged immobilization. Thus, further advancement in risk stratification using these biomarkers would allow for a better diagnosis of patients with VTE, especially in areas with limited resources.
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Adverse donor reactions (ADR) are common to occur during the blood donation process. The most common is vasovagal reactions (VVR) and it cause negative impact in the donor return rate. The aim of this study is to determine the prevalence of VVR among blood donors and to study its associated factors, at Hospital University Sains Malaysia (USM). This retrospective case-control study was conducted from June 2018, until June 2021. Data was extracted from the blood bank database system and from donor adverse reaction form. Donors who developed adverse donor reactions were chosen and without VVR were chosen at random as controls. A total of 159 donors, out of 35 134 donors were reported to have VVR which resulted in an overall prevalence of 0.45 %. Dizziness or mild VVR were the most frequently observed adverse reactions, accounting for approximately 87/159 (54.7 %) of all adverse reactions. Multiple logistic regression (MLR) analysis showed VVR were significantly associated with age, female gender, first-time donor, and 450 ml volume of blood collected. The prevalence of vasovagal reactions among blood donors in this study was low which was similar to a few previous studies. Although it was low, still it is very important to reduce risks to a minimum so that the donor return rate could be maintained. The information regarding its associated factors can be used to identify high-risk donors to prevent the incidence in the future.
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Donantes de Sangre , Síncope Vasovagal , Humanos , Femenino , Estudios Retrospectivos , Estudios de Casos y Controles , Prevalencia , Malasia/epidemiología , Síncope Vasovagal/epidemiología , Síncope Vasovagal/etiología , Hospitales UniversitariosRESUMEN
Multiple myeloma (MM) is an exceptionally complicated and heterogeneous disease that is caused by the abnormal proliferation of malignant monoclonal plasma cells initiated in the bone marrow. In disease progression, a multistep process including differentiation, proliferation, and invasion is involved. Despite great improvement in treatment outcomes in recent years due to the substantial discovery of novel therapeutic drugs, MM is still regarded as an incurable disease. Patients with MM are afflicted by confronting remission periods accompanied by relapse or progression outcomes, which inevitably progress to the refractory stage. In this regard, MM may need new medications or modifications in therapeutic strategies to overcome resistance. A variety of genetic abnormalities (e.g., point mutations, translocations, and deletions) and epigenetic changes (e.g., DNA methylation, histone modification, and non-coding RNA) contribute to the pathogenesis and development of MM. Here, we review the significant roles of epigenetic mechanisms in the development and progression of MM. We also highlight epigenetic pathways as potential novel treatment avenues for MM, including their interplay, use of epigenetic inhibitors, and major involvement in immuno-oncology.
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Anemia is a condition in which red blood cells and/or hemoglobin (Hb) concentrations are decreased below the normal range, resulting in a lack of oxygen being transported to tissues and organs. Those afflicted with this condition may feel lethargic and weak, which reduces their quality of life. The condition may be manifested in inherited blood disorders, such as thalassemia and sickle cell disease, whereas acquired disorders include aplastic anemia, chronic disease, drug toxicity, pregnancy, and nutritional deficiency. The augmentation of fetal hemoglobin (HbF) results in the reduction in clinical symptoms in beta-hemoglobinopathies. Several transcription factors as well as medications such as hydroxyurea may help red blood cells produce more HbF. HbF expression increases with the downregulation of three main quantitative trait loci, namely, the XMN1-HBG2, HBS1L-MYB, and BCL11A genes. These genes contain single nucleotide polymorphisms (SNPs) that modulate the expression of HbF differently in various populations. Allele discrimination is important in SNP genotyping and is widely applied in many assays. In conclusion, the expression of HbF with a genetic modifier is crucial in determining the severity of anemic diseases, and genetic modification of HbF expression may offer clinical benefits in diagnosis and disease management.
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Patients with heterozygous ß-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 ß-thalassemia who presented with symptomatic anemia and had a history of frequent blood transfusion in each pregnancy. Physical examination was unremarkable. Laboratory results at presentation showed hypochromic microcytic anemia with reticulocytosis. Molecular study revealed intermedia phenotypes resulting from coinheritance of heterozygous ß-globin chain mutation (IVS1-5) and a rare heterozygous α-globin triplication (αααanti-3.7). In this case report, we discuss the laboratory diagnostic approaches and the challenges faced in investigating this case.
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The 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. His serological results were suggestive of anti-Dia antibody, and his molecular blood group showed he has Di (a-b+) antigen. Anti-Dia may be clinically significant. It can cause mild-to-severe HDFN, but there are only infrequent reports of it being clearly implicated in a hemolytic transfusion reaction. We suggest the need for reagent red blood cell panels to include Dia antigen-positive cells in antibody identification tests for our populations.
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Alpha thalassemia (α-thalassemia) is an autosomal recessive disorder due to the reduction or absence of α globin chain production. Laboratory diagnosis of α-thalassemia requires molecular analysis for the confirmatory diagnosis. A screening test, comprising complete blood count, blood smear and hemoglobin quantification by high performance liquid chromatography and capillary electrophoresis, may not possibly detect all the thalassemia diseases. This review focused on the molecular techniques used to detect α-thalassemia, and the advantages and disadvantages of each technique were highlighted. Multiplex gap-polymerase chain reaction, single-tube multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification, and loop-mediated isothermal amplification were used to detect common deletion of α-thalassemia. Furthermore, the reverse dot blot analysis and a single tube multiplex polymerase chain reaction could detect non-deletion mutation of the α-globin gene. Sanger sequencing is widely used to detect non-deletion mutations of α-thalassemia. Recently, next-generation sequencing was introduced in the diagnosis of both deletion and point mutations of α-thalassemia. Despite the advantages and disadvantages of different techniques, the routine method employed in the laboratory should be based on the facility, expertise, available equipment, and economic conditions.
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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. This was a cross-sectional study with 200 registered nurses involved in blood transfusion procedures at Hospital Universiti Sains Malaysia. The knowledge of the nurses was evaluated by using the routine blood transfusion knowledge questionnaire based on five parts, and <50%, 50-74%, or ≥75% of the knowledge was considered as poor, moderate, or high, respectively. Based on the scoring system, the overall knowledge of blood transfusion among Malaysian nurses (33.2 ± 8.4 years) was estimated to be 54.9 ± 7.6%. In individual items, the scoring was 81.0%, 45.4%, 49.2%, 63.0%, and 90.0% in knowledge prior to blood transfusion, on pre-transfusion, on post-transfusion, on complications, and on transfusion policy, respectively. The findings of this study indicated that most of the nurses' overall knowledge of blood transfusion was at a moderate level; therefore, training courses and continuous medical education are warranted to improve knowledge and skills of the nurses to ensure good practices of blood transfusion.
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Competencia Clínica , Enfermeras y Enfermeros , Transfusión Sanguínea , Estudios Transversales , Conocimientos, Actitudes y Práctica en Salud , Hospitales Universitarios , Humanos , Malasia , Encuestas y CuestionariosRESUMEN
Mutations of JAK2V617F, CALR, and MPL genes confirm the diagnosis of myeloproliferative neoplasm (MPN). This study aims to determine the genetic profile of JAK2V617F, CALR exon 9 Type 1 (52 bp deletion) and Type 2 (5 bp insertion), and MPL W515 L/K genes among Malaysian patients and correlate these mutations with clinical and hematologic parameters in MPN. Mutations of JAK2V617F, CALR, and MPL were analyzed in 159 Malaysian patients using allele-specific polymerase chain reaction, including 76 polycythemia vera (PV), 41 essential thrombocythemia (ET), and 42 primary myelofibrosis (PMF) mutations, and the demographics of the patients were retrieved. The result showed that 73.6% JAK2V617F, 5.66% CALR, and 27.7% were triple-negative mutations. No MPL W515L/K mutation was detected. In ET and PMF, the predominance type was the CALR Type 1 mutation. In JAK2V617F mutant patients, serum LDH was significantly higher in PMF compared to PV and ET. PV has a higher risk of evolving to post PV myelofibrosis compared to ET. A thrombotic event at initial diagnosis of 40.9% was high compared to global incidence. Only one PMF patient had a CALR mutation that transformed to acute myeloid leukemia. JAK2V617F and CALR mutations play an important role in diagnostics. Hence, every patient suspected of having a myeloproliferative neoplasm should be screened for these mutations.