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Haematology: Diagnosis and Management
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Haematology: Diagnosis and Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 31752

Special Issue Editors

Prof. Dr. Rosline Hassan

E-Mail Website
Guest Editor
Department Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan 16150, Malaysia
Interests: AML; MPN; thalassemia; iron deficiency anaemia; genetic; cellular analysis
Dr. Muhammad Farid Johan

E-Mail Website
Co-Guest Editor
Department Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan 16150, Malaysia
Interests: leukaemia; thalassaemia; genetics; epigenetics

Special Issue Information

Dear Colleagues,

This Special Issue provides new insights about the diagnostic process and clinical management of all aspects of the prevention, diagnosis and management of disorders of the blood.

With the advent of precision medicine in haematology, tremendous advancement has been made in diagnosing and managing haematological disorders. Patients diagnosed with malignant haematology are being managed based on their genomic aberrations detected by various relatively new technologies, such as next-generation sequencing. Furthermore, targeted therapy for specific genomic aberrations has enabled the development of tailored therapy for patients based on their genetic makeup rather than depending on conventional chemotherapy regimens. As for non-malignant haematology, such as inherited haemoglobinopathies, early intervention and prevention have been made possible with screening programs to identify mutations, especially among the carriers, to prevent this disorder especially in countries with a high prevalence of haemoglobinopathies.

This Special Issue aims to provide comprehensive information on the development in the management and diagnosis of haematological disorders, encompassing fundamental haematology (e.g., cellular analysis) to advanced technologies such as sequencing technologies for the development of precision medicine. Therefore, contributions can be related but not limited to cellular analyses, flow cytometry, immunohistochemistry, cytogenetics, molecular genetic and genomics studies in the field of haematology.

In this Special Issue of Diagnostics, we invite authors to contribute original research articles as well as review articles in the various domains of hematological research, either fundamental, clinical or translational.

Prof. Dr. Rosline Hassan
Dr. Muhammad Farid Johan
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • diagnostic hematology
  • genetic and epigenetic
  • cellular analysis
  • erythrocyte disorder
  • leukocyte disorder
  • platelet disorder
  • coagulation disorder
  • bleeding disorders
  • leukaemia
  • lymphoma
  • transplantation
  • myeloma
  • myelodysplastic syndrome

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Published Papers (12 papers)

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Research

Jump to: Review, Other

13 pages, 1517 KiB  
Article
Reagent Effects on the Activated Partial Thromboplastin Time Clot Waveform Analysis: A Multi-Centre Study
by Wan Hui Wong, Chuen Wen Tan, Nabeelah Binti Abdul Khalid, Nadjwa Zamalek Dalimoenthe, Christina Yip, Chaicharoen Tantanate, Rodelio D. Lim, Ji Hyun Kim and Heng Joo Ng
Diagnostics 2023, 13(14), 2447; https://doi.org/10.3390/diagnostics13142447 - 22 Jul 2023
Cited by 2 | Viewed by 1793
Abstract
(1) Background: The activated partial thromboplastin time (APTT)- based clot waveform analysis (CWA) quantitatively extends information obtained from the APTT waveform through its derivatives. However, pre-analytical variables including reagent effects on the CWA parameters are poorly understood and must be standardized as a [...] Read more.
(1) Background: The activated partial thromboplastin time (APTT)- based clot waveform analysis (CWA) quantitatively extends information obtained from the APTT waveform through its derivatives. However, pre-analytical variables including reagent effects on the CWA parameters are poorly understood and must be standardized as a potential diagnostic assay. (2) Methods: CWA was first analysed with patient samples to understand reagent lot variation in three common APTT reagents: Pathromtin SL, Actin FS, and Actin FSL. A total of 1055 healthy volunteers were also recruited from seven institutions across the Asia-Pacific region and CWA data were collected with the Sysmex CS analysers. (3) Results: CWA parameters varied less than 10% between lots and the linear mixed model analysis showed few site-specific effects within the same reagent group. However, the CWA parameters were significantly different amongst all reagent groups and thus reagent-specific 95% reference intervals could be calculated using the nonparametric method. Post-hoc analysis showed some degree of influence by age and gender with weak correlation to the CWA (r < 0.3). (4) Conclusions: Reagent type significantly affects APTT-based CWA with minimal inter-laboratory variations with the same coagulometer series that allow for data pooling across laboratories with more evidence required for age- and gender-partitioning. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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11 pages, 1195 KiB  
Article
Exploring Extended White Blood Cell Parameters for the Evaluation of Sepsis among Patients Admitted to Intensive Care Units
by Sook Fong Ho, Swee Jin Tan, Mohd Zulfakar Mazlan, Salfarina Iberahim, Ying Xian Lee and Rosline Hassan
Diagnostics 2023, 13(14), 2445; https://doi.org/10.3390/diagnostics13142445 - 21 Jul 2023
Cited by 5 | Viewed by 3008
Abstract
Sepsis is a major cause of mortality and morbidity in intensive care units. This case–control study aimed to investigate the haematology cell population data and extended inflammatory parameters for sepsis management. The study included three groups of patients: sepsis, non-sepsis, and healthy controls. [...] Read more.
Sepsis is a major cause of mortality and morbidity in intensive care units. This case–control study aimed to investigate the haematology cell population data and extended inflammatory parameters for sepsis management. The study included three groups of patients: sepsis, non-sepsis, and healthy controls. Patients suspected of having sepsis underwent a Sequential Organ Failure Assessment (SOFA) evaluation and had blood drawn for blood cultures, complete peripheral blood counts (CBC), and measurements of various markers such as C-reactive protein (CRP), procalcitonin (PCT), and interleukin-6 (IL-6). We observed significant changes in numerous CBC parameters and extended inflammation parameters (EIPs), in addition to significant biochemical analysis markers CRP and IL-6 in sepsis cohorts. Multiple logistic regression analyses showed that combining different CBC parameters and EIPs were effective to profile these patients. Two different models have been developed using white blood cell counts and their extended parameters. Our findings indicate that the absolute counts of white blood cells, and the EIPs which reflect their activation states, are important for the prediction and assessment of sepsis, as the body responds to an insult that triggers an immune response. In an emergency situation, having timely updates on patient conditions becomes crucial for guiding the management process. Identifying trends in these specific patient groups will aid early diagnosis, complementing clinical signs and symptoms, especially as CBC is the most commonly ordered test in a diagnostic workup. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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9 pages, 942 KiB  
Article
Evaluation of Signal Transducer and Activator of Transcription 3 (STAT-3) Protein Expression in Non-Hodgkin Lymphoma Cases in Hospital USM
by Izyan Rifhana Muhamad, Noorul Balqis Che Ibrahim and Faezahtul Arbaeyah Hussain
Diagnostics 2023, 13(9), 1649; https://doi.org/10.3390/diagnostics13091649 - 7 May 2023
Viewed by 1502
Abstract
Background: Evolving targeted therapy on Janus Associated Kinase-Signal Transducer and Activator of Transcription (JAK-STAT) signaling pathway, especially pertaining to STAT-3 protein in non-Hodgkin lymphoma (NHL), provides new treatment strategies. STAT-3 protein also relates to the prognostication of NHL. Hence, we aimed to evaluate [...] Read more.
Background: Evolving targeted therapy on Janus Associated Kinase-Signal Transducer and Activator of Transcription (JAK-STAT) signaling pathway, especially pertaining to STAT-3 protein in non-Hodgkin lymphoma (NHL), provides new treatment strategies. STAT-3 protein also relates to the prognostication of NHL. Hence, we aimed to evaluate the expression of STAT-3 protein in NHL cases diagnosed in Hospital Universiti Sains Malaysia (USM). Methods: A retrospective cross sectional study using formalin fixed paraffin embedded (FFPE) tissue blocks of 95 NHL cases were obtained. STAT-3 immunostaining was performed and evaluated. The proportion and association between the expression of STAT-3 protein with subtypes of NHL were statistically analyzed. Results: The majority of the cases (78.9%) had positive STAT-3 protein expression. 64.2% were among aggressive B cell NHL, whilst 20.0% of them were diffuse large B cell lymphoma, a non-germinal center B subtype (DLBCL-NGCB). There is also an association between STAT-3 protein expression with DLBCL subtypes (p = 0.046). Conclusion: Our study demonstrated a remarkable expression of STAT-3 protein in NHL, in which DLBCL subtypes had significant association. A larger scale study with a combination of JAK protein evaluation should be undertaken in the future. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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13 pages, 1903 KiB  
Article
Validation of a Machine Learning Expert Supporting System, ImmunoGenius, Using Immunohistochemistry Results of 3000 Patients with Lymphoid Neoplasms
by Jamshid Abdul-Ghafar, Kyung Jin Seo, Hye-Ra Jung, Gyeongsin Park, Seung-Sook Lee and Yosep Chong
Diagnostics 2023, 13(7), 1308; https://doi.org/10.3390/diagnostics13071308 - 31 Mar 2023
Cited by 3 | Viewed by 1851
Abstract
(1) Background: Differential diagnosis using immunohistochemistry (IHC) panels is a crucial step in the pathological diagnosis of hematolymphoid neoplasms. In this study, we evaluated the prediction accuracy of the ImmunoGenius software using nationwide data to validate its clinical utility. (2) Methods: We collected [...] Read more.
(1) Background: Differential diagnosis using immunohistochemistry (IHC) panels is a crucial step in the pathological diagnosis of hematolymphoid neoplasms. In this study, we evaluated the prediction accuracy of the ImmunoGenius software using nationwide data to validate its clinical utility. (2) Methods: We collected pathologically confirmed lymphoid neoplasms and their corresponding IHC results from 25 major university hospitals in Korea between 2015 and 2016. We tested ImmunoGenius using these real IHC panel data and compared the precision hit rate with previously reported diagnoses. (3) Results: We enrolled 3052 cases of lymphoid neoplasms with an average of 8.3 IHC results. The precision hit rate was 84.5% for these cases, whereas it was 95.0% for 984 in-house cases. (4) Discussion: ImmunoGenius showed excellent results in most B-cell lymphomas and generally showed equivalent performance in T-cell lymphomas. The primary reasons for inaccurate precision were atypical IHC profiles of certain cases, lack of disease-specific markers, and overlapping IHC profiles of similar diseases. We verified that the machine-learning algorithm could be applied for diagnosis precision with a generally acceptable hit rate in a nationwide dataset. Clinical and histological features should also be taken into account for the proper use of this system in the decision-making process. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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15 pages, 3794 KiB  
Article
HBB Gene Mutations and Their Pathological Impacts on HbE/β-Thalassaemia in Kuala Terengganu, Malaysia
by Hanan Kamel M. Saad, Wan Rohani Wan Taib, Azly Sumanty Ab Ghani, Imilia Ismail, Futoon Abedrabbu Al-Rawashde, Belal Almajali, Maysa Alhawamdeh, Alawiyah Awang Abd Rahman, Abdullah Saleh Al-wajeeh and Hamid Ali Nagi Al-Jamal
Diagnostics 2023, 13(7), 1247; https://doi.org/10.3390/diagnostics13071247 - 26 Mar 2023
Cited by 2 | Viewed by 3462
Abstract
Background: β-thalassaemia is a disorder caused by mutations in the β-globin gene, leading to defective production of haemoglobins (Hb) and red blood cells (RBCs). It is characterised by anaemia, ineffective erythropoiesis, and iron overload. Patients with severe β-thalassaemia require lifelong blood transfusions. Haemoglobin [...] Read more.
Background: β-thalassaemia is a disorder caused by mutations in the β-globin gene, leading to defective production of haemoglobins (Hb) and red blood cells (RBCs). It is characterised by anaemia, ineffective erythropoiesis, and iron overload. Patients with severe β-thalassaemia require lifelong blood transfusions. Haemoglobin E beta-thalassaemia (HbE/β-thalassaemia) is a severe form of β-thalassaemia in Asian countries. More than 200 alleles have been recognised in the β-globin region. Different geographical regions show different frequencies of allelic characteristics. In this study, the spectrum of β-thalassaemia (β-thal) alleles and their correlation with iron overload, in HbE/β-thalassaemia patients, β-thalassaemia trait, and HbE trait were studied. Methods: Blood samples (n = 260) were collected from 65 β-thalassaemia patients, 65 parents (fathers and/or mothers) and 130 healthy control individuals. Haematological analyses, iron profiles, and serum hepcidin levels were examined for all participants. DNA was extracted from patients’ and their parents’ blood samples, then subjected to PCR amplification. Multiplex amplification refractory mutation system PCR (MARMS-PCR) was conducted for eighteen primers to detect the mutations. Results: There was severe anaemia present in HbE/β-thalassaemia patients compared to their parents and healthy controls. The ferritin and iron levels were significantly increased in patients compared to their parents and healthy controls (p = 0.001). Two common mutations were detected among the patient group and three mutations were detected among their parents, in addition to seven novel mutations in HbE/β-thalassaemia patients (explained in results). Conclusion: Some mutations were associated with severe anaemia in β-thalassaemia patients. The detection of mutations is a prognostic marker, and could enhance the appropriate management protocols and improve the haematological and biochemical statuses of β-thalassaemia patients. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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11 pages, 906 KiB  
Article
Cell Count Differentials by Cytomorphology and Next-Generation Flow Cytometry in Bone Marrow Aspirate: An Evidence-Based Approach
by Rafael Ríos-Tamayo, María José Sánchez, Sandra Gómez-Rojas, Miguel Rodríguez-Barranco, Gloria Pérez Segura, Daniel Redondo-Sánchez, Gonzalo CARREÑO-TARRAGONA, Antonio Rodríguez Nicolás, Francisco Ruiz-Cabello, Pilar Jiménez, Rafael Alonso, Juan José Lahuerta, Joaquín Martínez-López and Rafael F. Duarte
Diagnostics 2023, 13(6), 1071; https://doi.org/10.3390/diagnostics13061071 - 11 Mar 2023
Viewed by 2576
Abstract
Despite a lack of evidence, a bone marrow aspirate differential of 500 cells is commonly used in the clinical setting. We aimed to test the performance of 200-cell counts for daily hematological workup. In total, 660 consecutive samples were analyzed recording differentials at [...] Read more.
Despite a lack of evidence, a bone marrow aspirate differential of 500 cells is commonly used in the clinical setting. We aimed to test the performance of 200-cell counts for daily hematological workup. In total, 660 consecutive samples were analyzed recording differentials at 200 and 500 cells. Additionally, immunophenotype results and preanalytical issues were also evaluated. Clinical and statistical differences between both cutoffs and both methods were checked. An independent control group of 122 patients was included. All comparisons between both cutoffs and both methods for all relevant types of cells did not show statistically significant differences. No significant diagnostic discrepancies were demonstrated in the contingency table analysis. This is a real-life study, and some limitations may be pointed out, such as a different sample sizes according to the type of cell in the immunophenotype analysis, the lack of standardization of some preanalytical events, and the relatively small sample size of the control group. The comparisons of differentials by morphology on 200 and 500 cells, as well as by morphology (both cutoffs) and by immunophenotype, are equivalent from the clinical and statistical point of view. The preanalytical issues play a critical role in the assessment of bone marrow aspirate samples. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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13 pages, 1277 KiB  
Article
Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia
by Divashini Vijian, Wan Suriana Wan Ab Rahman, Kannan Thirumulu Ponnuraj, Zefarina Zulkafli, Rosnah Bahar, Norafiza Yasin, Syahzuwan Hassan and Ezalia Esa
Diagnostics 2023, 13(5), 894; https://doi.org/10.3390/diagnostics13050894 - 27 Feb 2023
Cited by 3 | Viewed by 4505
Abstract
(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 [...] Read more.
(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. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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12 pages, 802 KiB  
Article
Red Blood Cell Alloimmunization and Its Associated Factors among Chronic Liver Disease Patients in a Teaching Hospital in Northeastern Malaysia
by Siti Zaleha S. Abdullah, Mohd Nazri Hassan, Marini Ramli, Marne Abdullah and Noor Haslina Mohd Noor
Diagnostics 2023, 13(5), 886; https://doi.org/10.3390/diagnostics13050886 - 25 Feb 2023
Cited by 2 | Viewed by 2546
Abstract
Red blood cell (RBC) alloimmunization is an important complication of blood transfusion. Variations in the frequency of alloimmunization have been noted among different patient populations. We aimed to determine the prevalence of RBC alloimmunization and associated factors among chronic liver disease (CLD) patients [...] Read more.
Red blood cell (RBC) alloimmunization is an important complication of blood transfusion. Variations in the frequency of alloimmunization have been noted among different patient populations. We aimed to determine the prevalence of RBC alloimmunization and associated factors among chronic liver disease (CLD) patients in our center. This is a case-control study involving 441 patients with CLD who were being treated at Hospital Universiti Sains Malaysia and subjected to pre-transfusion testing from April 2012 until April 2022. Clinical and laboratory data were retrieved and statistically analyzed. A total of 441 CLD patients were included in our study, with the majority being elderly, with the mean age of patients 57.9 (SD ± 12.1) years old, male (65.1%) and Malays (92.1%). The most common causes of CLD in our center are viral hepatitis (62.1%) and metabolic liver disease (25.4%). Twenty-four patients were reported to have RBC alloimmunization, resulting in an overall prevalence of 5.4%. Higher rates of alloimmunization were seen in females (7.1%) and patients with autoimmune hepatitis (11.1%). Most patients developed a single alloantibody (83.3%). The most common alloantibody identified belonged to the Rh blood group, anti-E (35.7%) and anti-c (14.3%), followed by the MNS blood group, anti-Mia (17.9%). There was no significant factor association of RBC alloimmunization among CLD patients identified. Our center has a low prevalence of RBC alloimmunization among CLD patients. However, the majority of them developed clinically significant RBC alloantibodies, mostly from the Rh blood group. Therefore, phenotype matching for Rh blood groups should be provided for CLD patients requiring blood transfusions in our center to prevent RBC alloimmunization. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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12 pages, 843 KiB  
Article
Novel Decision Tool for More Severe α-Thalassemia Genotypes Screening with Functional Loss of Two or More α-Globin Genes: A Diagnostic Test Study
by Patricia F. R. Siqueira, Marcos K. Fleury, Robéria M. Pontes, Renata S. P. Silva, Elaine S. Costa and Marcelo G. P. Land
Diagnostics 2022, 12(12), 3008; https://doi.org/10.3390/diagnostics12123008 - 1 Dec 2022
Cited by 1 | Viewed by 1889
Abstract
After the exclusion of iron deficiency and β-thalassemia, molecular research for α-thalassemia is recommended to investigate microcytic anemia. Aiming to suggest more efficiently the molecular analysis for individuals with a greater chance of having a symptomatic form of the disease, we have developed [...] Read more.
After the exclusion of iron deficiency and β-thalassemia, molecular research for α-thalassemia is recommended to investigate microcytic anemia. Aiming to suggest more efficiently the molecular analysis for individuals with a greater chance of having a symptomatic form of the disease, we have developed and validated a new decision tool to predict the presence of two or more deletions of α-thalassemia, increasing considerably the pre-test probability. The model was created using the variables: the percentage of HbA2, serum ferritin and mean corpuscular volume standardized by age. The model was trained in 134 patients and validated in 160 randomly selected patients from the total sample. We used Youden’s index applied to the ROC curve methodology to establish the optimal odds ratio (OR) cut-off for the presence of two or more α-globin gene deletions. Using the OR cut-off of 0.4, the model’s negative predictive value (NPV) was 96.8%; the cut-off point accuracy was 85.4%; and the molecular analysis pre-test probability increased from 25.9% to 65.4% after the use of the proposed model. This tool aims to assist the physician in deciding when to perform molecular studies for the diagnosis of α-thalassemia. The model is useful in places with few financial health resources. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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Review

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19 pages, 508 KiB  
Review
Perspectives on the Application of Cytogenomic Approaches in Chronic Lymphocytic Leukaemia
by Wan Norizzati Wan Mohamad Zamri, Nazihah Mohd Yunus, Ahmad Aizat Abdul Aziz, Ninie Nadia Zulkipli and Sarina Sulong
Diagnostics 2023, 13(5), 964; https://doi.org/10.3390/diagnostics13050964 - 3 Mar 2023
Cited by 4 | Viewed by 2542
Abstract
Chronic lymphocytic leukaemia (CLL) is a haematological malignancy characterised by the accumulation of monoclonal mature B lymphocytes (positive for CD5+ and CD23+) in peripheral blood, bone marrow, and lymph nodes. Although CLL is reported to be rare in Asian countries compared to Western [...] Read more.
Chronic lymphocytic leukaemia (CLL) is a haematological malignancy characterised by the accumulation of monoclonal mature B lymphocytes (positive for CD5+ and CD23+) in peripheral blood, bone marrow, and lymph nodes. Although CLL is reported to be rare in Asian countries compared to Western countries, the disease course is more aggressive in Asian countries than in their Western counterparts. It has been postulated that this is due to genetic variants between populations. Various cytogenomic methods, either of the traditional type (conventional cytogenetics or fluorescence in situ hybridisation (FISH)) or using more advanced technology such as DNA microarrays, next generation sequencing (NGS), or genome wide association studies (GWAS), were used to detect chromosomal aberrations in CLL. Up until now, conventional cytogenetic analysis remained the gold standard in diagnosing chromosomal abnormality in haematological malignancy including CLL, even though it is tedious and time-consuming. In concordance with technological advancement, DNA microarrays are gaining popularity among clinicians as they are faster and better able to accurately diagnose the presence of chromosomal abnormalities. However, every technology has challenges to overcome. In this review, CLL and its genetic abnormalities will be discussed, as well as the application of microarray technology as a diagnostic platform. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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15 pages, 1012 KiB  
Review
Haemostasis and Inflammatory Parameters as Potential Diagnostic Biomarkers for VTE in Trauma-Immobilized Patients
by Noor Nabila Ramli, Salfarina Iberahim, Noor Haslina Mohd Noor, Zefarina Zulkafli, Tengku Muzaffar Tengku Md Shihabuddin, Mohd Hadizie Din, Muhamad Aizat Mohamed Saat and Ahmad Hadif Zaidin Samsudin
Diagnostics 2023, 13(1), 150; https://doi.org/10.3390/diagnostics13010150 - 2 Jan 2023
Cited by 4 | Viewed by 2344
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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Other

Jump to: Research, Review

17 pages, 604 KiB  
Systematic Review
Pediatric Philadelphia-Negative Myeloproliferative Neoplasms in the Era of WHO Classification: A Systematic Review
by Abdulrahman F. Al-Mashdali, Mahmood B. Aldapt, Alaa Rahhal, Yousef M. Hailan, Israa Elhakeem, Elrazi A. Ali, Waail Rozi and Mohamed A. Yassin
Diagnostics 2023, 13(3), 377; https://doi.org/10.3390/diagnostics13030377 - 19 Jan 2023
Viewed by 2418
Abstract
Background: Philadelphia-negative myeloproliferative neoplasms (MPN) are most prevalent in the older population (median age at the diagnosis is above 60 years) and rarely diagnosed in pediatrics. Thus, our knowledge about the clinical presentation, mutational status, and complications of MPNs in pediatrics is limited. [...] Read more.
Background: Philadelphia-negative myeloproliferative neoplasms (MPN) are most prevalent in the older population (median age at the diagnosis is above 60 years) and rarely diagnosed in pediatrics. Thus, our knowledge about the clinical presentation, mutational status, and complications of MPNs in pediatrics is limited. Methods: The literature in English (PubMed, SCOPUS, and Google Scholar) was searched for studies, reviews, case series, and case reports of patients with Philadelphia-negative MPNs (including essential thrombocythemia, polycythemia vera, primary myelofibrosis, and profibrotic myelofibrosis) in the pediatrics age group (less than 18 years). Only studies that fulfilled WHO 2008 or 2016 criteria for MPNs were included. We aimed to describe the clinical characteristics, vascular and long-term complications, types of driver mutations, and treatment approaches in pediatric patients with MPNs. Results: We reviewed 33 articles of available published literature from 2008 to 2022 and collected data from a total of 196 patients of the pediatric population. Among the cohort of patients, 139 had essential thrombocythemia (ET), 20 had polycythemia vera (PV), and 37 had primary myelofibrosis (PMF). The median age at the time of diagnosis for each disease varied, with 8.8 years for ET, 10 years for PV, and 3.6 years for MF. There was a slight difference in gender prevalence between both gender groups and all three diseases. The presenting symptoms were not mentioned in more than 50% of studies. We found that JAK2 was the most prevalent among all mutations. Both bleeding and thrombosis were present equally in ET, with 9% of cases complicated by bleeding and 9% complicated by thrombosis. Hemorrhagic events did not occur in patients with PV; thrombosis in children with MF was also not found. The progression into AML occurred in two patients with PV and one with ET. Conclusion: Given the rarity of MPNs in pediatrics and their different characteristics compared with adults, we believe there is a need for unique diagnostic criteria to match the different molecular statuses in pediatrics. Based on our review, the incidence of MPN complications in pediatrics, including thrombotic events, hemorrhage, and leukemic transformation, differs from that in adults. Full article
(This article belongs to the Special Issue Haematology: Diagnosis and Management)
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