Abstract: BACKGROUND: Hematological malignancies represent a heterogeneous group of disorders with variable epidemiology across ethnic and geographic populations. Data from Saudi Arabia and the broader Middle East remain sparse, particularly from centers serving large migrant populations. OBJECTIVES: To describe the demographic characteristics of patients with hematological malignancies at a tertiary referral center in Jeddah, to determine the relative frequency and distribution of major hematological malignancy categories, and to characterize age and sex distribution across diagnostic groups. METHODS: A retrospective registry-based cohort study was conducted on 1,569 patient records registered at a hematology department in Jeddah between 2010 and 2021. Diagnoses were reclassified according to the World Health Organization 2016 criteria, the classification in use at the time of data coding. Descriptive statistics were used to characterize the cohort. RESULTS: The cohort comprised 1569 patients (57.1% male; M:F ratio: 1.33:1) with a mean age of 41.1 ± 24.2 years (range: 0–101). Non-Hodgkin lymphoma (HL) was the most common diagnosis (456 cases; 29.1%), followed by acute lymphoblastic leukemia (236; 15.0%), plasma cell disorders including monoclonal gammopathy of undetermined significance (184; 11.7%), and HL (176; 11.2%). Non-Saudi patients constituted 67.7% of the cohort, with Yemeni (22.6%), Pakistani (6.9%), and Syrian (5.5%) nationals being the most represented non-Saudi groups. A female predominance was observed in myeloproliferative neoplasms (56.5%) and myelodysplastic syndromes (61.7%). CONCLUSION: This single-center cohort provides a contemporary epidemiological snapshot of hematological malignancies in a diverse Middle Eastern tertiary center. The high proportion of lymphoid malignancies and the multiethnic patient composition underscore the need for region-specific registries and prospective data collection to inform healthcare planning and resource allocation.
BACKGROUND: Hemoglobinopathies are highly prevalent in Odisha, India and are associated with red blood cell (RBC) physiology through chronic hemolysis, oxidative stress, and altered energy metabolism. However, data on RBC glucose metabolism and redox status on hemoglobin variants are limited. AIMS: The aim of this study was to access the glucose metabolism and oxidative stress markers among hemoglobinopathy subtypes and identify HbVariant-specific metabolic signatures. MATERIALS AND METHODS: This cross-sectional study enrolled 490 adults (18–60 years) with HbAA, HbAS, HbSS, HbS/β-thalassemia, HbSDPunjab, HbSE, and β-thalassemia. Hemoglobin variants were identified using cation-exchange high-performance liquid chromatography. Hematological and biochemical markers, glycolytic intermediates, RBC adenosine triphosphate (ATP), NADP/NADPH, G6PD activity, malondialdehyde, and glutathione were measured using standardized assays. An unpaired Student’s t-test with a Tukey–Kramer post hoc multiple comparisons test was performed using GraphPad Prism (v. 5), and multivariate clustering analysis, including heat maps and principal component analysis, was performed using MetaboAnalyst 6.0. A P < 0.05 is considered significant. RESULTS: Hemoglobinopathies, such as HbSS, HbS/β-thalassemia, and β-thalassemia, presented significant anemia, increased hemolysis (lactate dehydrogenase and bilirubin), and oxidative stress markers (increased malondialdehyde and declined reduced glutathione levels (P < 0.0001)). Metabolic profiling showed higher levels of lactate, different pyruvate levels, lower RBC ATP, and NADPH/NADP ratio (P < 0.0001). Multivariate analysis clearly differentiated control, sickle cell trait, and Hb-disordered groups based on metabolic profiles. CONCLUSIONS: Hemoglobinopathies show significant disruptions in glucose metabolism and redox equilibrium.
BACKGROUND: Iron-deficiency anemia (IDA) is a common and widespread disease; but the role of blood groups ABO and Rh in affecting haemoglobin (Hb) and ferritin is unclear and has yet to be found. OBJECTIVE: To explore the relationship between ABO and Rh blood group systems and serum Hb and ferritin concentration in adults with IDA. MATERIALS AND METHODS: This was a cross-sectional study of 130 subjects (65 patients with IDA and age- and sex-matched controls). ABO and Rh blood types were determined by the agglutination method. Hb was measured by an automated system and serum ferritin by chemiluminescence immunoassay. Analysis was done using the SPSS software version 20 and appropriate parametric or nonparametric statistics. RESULTS: There was no statistically significant correlation between ABO or Rh blood group distribution and the incidence of IDA. Nonetheless, the levels of Hb and serum (s.) ferritin were significantly lower among patients than controls (P < 0.001). In the IDA group, hematological variables such as Hb (P = 0.040) and ferritin (P = 0.004) significantly differed across ABO blood groups, while no differences were found among controls. CONCLUSION: ABO and Rh blood groups were not associated with the risk of IDA. However, differences of Hb and ferritin concentrations among ABO blood groups indicate a possible role in modifying the disease expression and needs to be confirmed in larger, well-designed studies.
The therapeutic landscape for relapsed or refractory multiple myeloma (RRMM) has evolved with the introduction of B-cell maturation antigen (BCMA)-directed agents and novel triplet combinations; however, robust comparative evidence in lenalidomide-refractory patients with early relapse remains limited. We conducted a systematic review and network meta-analysis (NMA) of phase 3 randomized controlled trials (RCTs) comparing BCMA-targeted therapies with standard regimens in adults with RRMM after 1-3 prior lines. MEDLINE, Embase, CENTRAL, and Web of Science were searched from inception through December 2025. The primary endpoint was progression-free survival (PFS), which was quantitatively synthesized using NMA; overall survival (OS), minimal residual disease (MRD) negativity, and grade ≥3 adverse events were summarized descriptively. Ten phase 3 RCTs met the inclusion criteria. Experimental regimens consistently improved PFS compared with control arms, with hazard ratios ranging from 0.31 to 0.70 across trials. Within the connected network, anti-CD38-based triplets demonstrated the most favorable PFS estimates. Although BCMA-directed therapies showed superior efficacy in direct comparisons, including deeper responses and higher MRD negativity rates, limited network connectivity precluded robust indirect comparisons across therapeutic classes. OS data were heterogeneous and frequently immature, and safety outcomes were not quantitatively synthesized. Multiple therapeutic strategies improve PFS in lenalidomide-refractory RRMM during early relapse. Anti-CD38-based triplets remain a cornerstone of care, while BCMA-directed therapies represent a promising alternative. However, structural limitations of the evidence network warrant cautious interpretation.
Familial erythrocytosis type 2 (ECYT2), also known as Chuvash polycythemia, is a rare autosomal recessive disorder caused by pathogenic variants in the von Hippel–Lindau (VHL) gene, resulting in dysregulated oxygen sensing and increased erythropoietin (EPO) production. Pediatric cases are uncommon, but may be associated with serious thrombotic complications. We describe a 12-year-old girl who presented with intermittent headache and dizziness for 3 months, with recent worsening. Clinical examination showed conjunctival plethora and dusky extremities with normal oxygen saturation and no focal neurological deficits. Laboratory evaluation revealed marked erythrocytosis with hemoglobin 21.6 g/dL and hematocrit 66.2%, normal leukocyte and platelet counts, and markedly elevated serum EPO levels. Secondary causes of erythrocytosis were excluded. Whole exome sequencing identified a homozygous synonymous VHL variant (p.Asp143=), previously associated with erythrocytosis. Brain magnetic resonance imaging demonstrated bilateral watershed infarcts attributed to hyperviscosity. The child was managed with therapeutic phlebotomy, hydration, and antiplatelet therapy and remains clinically stable on follow-up. This report underscores the clinical significance of synonymous VHL variants and the importance of early genetic diagnosis to prevent thrombotic complications.
Clostridium difficile infection is a leading cause of healthcare-associated diarrhea with significant morbidity and mortality, particularly in immunocompromised and elderly patients. Due to inflammation-induced hypercoagulability and depletion of anticoagulant proteins, emerging links to thromboembolic complications have been described; nevertheless, thromboembolic events are still considered rare. An elderly male patient with multiple comorbidities presented with a chronic history of diarrhea. Confirmed to have severe C. difficile colitis and an incidental finding of arterial thromboembolic event in the form of pulmonary embolism (PE) in the setting of severe hypoalbuminemia and malabsorption. The patient received targeted antibiotics, anticoagulation, and supportive management. Marked resolution of his condition was proven with clinical, laboratory, and radiological evidence. The hypercoagulable status, loss of anticoagulants, thrombin generation, endothelium dysfunction from sepsis, stasis, and advanced age are all risk factors that have resulted in our case of severe Clostridial colitis, complicated by PE. As such, patients are at higher risk of developing such complications; close monitoring should be warranted for thromboembolic events in patients with Clostridium difficile, in particular, those with severe infection.
BACKGROUND: Red blood cell (RBC) transfusion is commonly expected to increase hemoglobin concentration by approximately 1 g/dL/unit transfused. However, considerable variability in posttransfusion hemoglobin response is observed in routine clinical practice. Understanding the physiological factors influencing this variability may improve the interpretation of transfusion response and support patient blood management strategies. METHODS: We conducted a prospective observational cohort study of 518 hemodynamically stable hospitalized adults receiving a single unit of RBCs. Hemoglobin concentrations were measured before transfusion and at 12, 24, and 48 h afterward. The primary outcome was hemoglobin increment at 24 h (ΔHb24). Associations between baseline hemoglobin concentration and hemoglobin response were evaluated using stratified comparisons and multivariable regression models incorporating clinical and physiological covariates. RESULTS: Mean baseline hemoglobin was 8.2 g/dL, and the mean hemoglobin increment at 24 h was 1.41 g/dL. Hemoglobin response demonstrated a graded inverse relationship with baseline hemoglobin concentration, with larger measurable increments observed in patients with more severe anemia. In multivariable analysis, baseline hemoglobin remained the strongest independent determinant of hemoglobin response. The estimated transfused red cell mass was independently associated with posttransfusion hemoglobin levels, whereas splenomegaly showed modest attenuation of response. Renal dysfunction, hepatic dysfunction, and donor unit storage characteristics were not significant predictors. CONCLUSION: Hemoglobin increment following single-unit RBC transfusion varies systematically with baseline anemia severity and transfused red cell dose. These findings support the concept that posttransfusion hemoglobin change reflects physiological distribution rather than a fixed dose effect and reinforce the importance of reassessment following transfusion.
BACKGROUND: Interleukin (IL)-6 has been shown to be an inducer of the acute phase response and to play a role in the pathogenesis of several diseases, including graft versus host disease (GVHD) after allogeneic hematopoietic stem cell transplantation (HSCT). MATERIALS AND METHODS: The relationship between pretransplantation IL-6, procalcitonin (PCT), and C-reactive protein (CRP) levels of 31 allogeneic HSCT patients and their age, gender, donor relationship, and, if deceased, the number of days after transplantation (in days) after death was analyzed. RESULTS: No association was observed between IL-6 and gender (P = 0.656), diagnosis (P = 0.485), donor relationship (P = 0.133), sepsis (P = 0.453), GVHD (P = 0.365), and GVHD degree (P = 0.482). A positive correlation was observed between PCT level and IL-6 (P = 0.011). A positive correlation was found between the patients’ CRP values and PCT values P = 0.001). A positive correlation was observed between the patients’ PCT levels and platelet engraftment (P = 0.006). It was observed that as the patients’ PCT levels increased, the platelet engraftment day of the patients was delayed. CONCLUSION: There is no difference between the IL-6 level before allogeneic HSCT and transplant parameters, engraftment time, and time to death after transplantation. Although IL-6 levels did not appear to have an effect on the development of GVHD after transplantation, further controlled studies were considered necessary. The IL-6 level and the PCT level progress in parallel before transplant. The PCT level delays platelet engraftment.
BACKGROUND: Stroke is a major cause of morbidity in children with sickle cell disease (SCD). We aimed to characterize clinical and demographic features, risk factors, and outcomes of pediatric SCD patients who developed stroke at a tertiary center in Saudi Arabia. METHODOLOGY: We conducted a retrospective, single-center review of children (2–14 years) with confirmed SCD and overt stroke (first or recurrent) verified by neuroimaging. Extracted data included demographics, comorbidities (acute chest syndrome, vaso-occlusive crisis), stroke characteristics, imaging, acute management, and outcomes. RESULTS: Thirty-seven children were identified (mean age at stroke 6.9 years; 64.9% girls). Ischemic stroke predominated (91.9%); recurrence occurred in 32.4%. A family history of stroke was present in 24.3%. At presentation, hemoglobin was <8 g/dL in 73.0%. Eight patients had documented COVID-19 infection – three concurrent with stroke onset and five within the preceding months – suggesting both immediate and delayed thrombo-inflammatory effects. Although a formal transcranial Doppler (TCD) program exists, TCD was performed in only 21.6% and was abnormal in 37.5% of those tested. All patients received exchange transfusion acutely; 27.0% were on hydroxyurea before stroke, and poststroke hydroxyurea use rose to 86.5% (64.9% good adherence; 21.6% poor), with 13.5% remaining off therapy. Higher baseline platelet counts were associated with recurrence (mean 528.7 vs. 363.9 × 109/L; P = 0.032). CONCLUSION: Pediatric SCD strokes occurred at a young age with substantial recurrence. Findings highlight implementation gaps – underutilized TCD and delayed hydroxyurea initiation – despite availability, and suggest closer surveillance for children with high platelet counts or recent systemic infection, particularly within regional and national sickle cell programs.
BACKGROUND: Gynecological and nutritional factors are key contributors to the development of iron deficiency anemia (IDA) in women. OBJECTIVE: This study was conducted to assess IDA among female university students in Saudi Arabia. DESIGN: Cross-sectional study. SETTING: University. PATIENTS AND METHODS: A total of 1100 female university students and staff were surveyed from August to November 2024. Participants completed questionnaires and had blood samples drawn (5 mL each in ethylenediaminetetraacetic acid and serum separator tube (SST) tubes), which were analyzed for complete blood count, hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin, iron, unsaturated iron binding capacity, ferritin, and total iron binding capacity using Beckman Coulter instruments. The data were analyzed using 2025 JMP, v. 18, for descriptive and Chi-square statistics. SAMPLE SIZE: Sample size was 1100 participants. RESULTS: The study included 1081 participants, predominantly aged 18–25 years (95%), Saudi nationals (98%), undergraduates (77%), and single (99%). Iron deficiency was prevalent among the participants (60%), with 20% reporting having anemia. Of the 20% with confirmed anemia, 84.3% were iron-deficient; only 15.7% had normal serum iron levels with different types of anemia. Menstrual patterns varied: 83% reported having regular cycles; 97% having a cycle each month; and 88% normal flow. Menstrual frequency and duration significantly impacted iron status and anemia type (P < 0.05). Dietary intake significantly iron status, with regular meat consumers showing higher normal iron levels (43%), while green leafy vegetable consumers had higher iron deficiency (59%). CONCLUSIONS: Prompt clinical intervention for conditions such as increased menstrual frequency and prolonged menstrual duration, coupled with the inclusion of iron-rich sources in the diet, particularly meat, is critical for the prevention of IDA. LIMITATIONS: Cross-sectional design.
BACKGROUND: Chronic transfusion therapy in β-thalassemia causes progressive iron overload and oxidative hepatocellular injury. Conventional markers, such as serum ferritin and aminotransferases, are limited by their lack of specificity, highlighting the need for reliable, noninvasive biomarkers of hepatic necrosis. OBJECTIVE: To evaluate serum cytokeratin-18 (CK-18) as a biomarker of hepatocellular injury in patients with β-thalassemia and to compare its levels between transfusion-dependent β-thalassemia (TDT) and non-transfusion-dependent β-thalassemia (NTDT) cohorts. MATERIALS AND METHODS: We conducted a cross-sectional study that enrolled 160 patients with confirmed beta-thalassemia (130 TDT and 30 NTDT) at the Hereditary Blood Disorder Center, Karbala Teaching Hospital for Maternity and Children (November 2024–December 2025). Serum CK-18, alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (ALP), and ferritin levels were measured. We used an independent samples t-test and Pearson correlation analysis. RESULTS: TDT patients exhibited significantly higher serum concentrations of CK-18 (353.9 ± 189.4 vs. 64.1 ± 20.7 pg/mL; P < 0.01), ferritin (2566.3 ± 1873.5 vs. 134.2 ± 115.5 ng/mL; P < 0.01), and all liver enzymes than NTDT patients. CK-18 concentration significantly correlated with those of ALT (r = 0.388), AST (r = 0.384), ALP (r = 0.264), and ferritin (r = 0.415; all P < 0.01). Patients with elevated liver enzyme levels had substantially higher CK-18 concentrations than those with normal enzyme levels (P < 0.01). CONCLUSION: Serum CK-18 levels were significantly elevated in transfusion-dependent β-thalassemia and consistently correlated with established hepatic injury markers, confirming its utility as a sensitive, noninvasive indicator of ongoing hepatocellular death.
BACKGROUND: Artificial intelligence (AI) is increasingly embedded in hematology diagnostic laboratories, where it supports blood smear interpretation, flow cytometry, genomic analysis, and clinical decision support. While these tools can enhance efficiency and diagnostic accuracy, their deployment raises unresolved questions about clinical safety and legal accountability. This analytical review synthesizes the recent evidence from hematology, clinical risk management, and patient safety literature to map the principal risks, failure modes, and medicolegal challenges associated with AI in hematology diagnostic laboratories. OBJECTIVE: To synthesize recent evidence on the principal risks, failure modes, budgeting for implementation and medicolegal challenges posed by AI in hematology diagnostic laboratories and to propose an actionable safety and accountability agenda for safe clinical integration. METHODOLOGY: After reviewing over 70 articles, 48 were selected for further consideration. The review, which focused on AI applications, safety, risk management, regulatory guidance, and medico-legal analyses pertinent to hematology diagnostic laboratories, was founded on a literature search in the PubMed, Embase, Google Scholar, and Scopus databases. REVIEW: AI is being used in laboratory hematology for flow cytometry, genomic analysis, clinical decision support, and the interpretation of peripheral blood and bone marrow smears. Dataset shift and sampling bias, preanalytical variability and label noise, algorithmic bias and spurious correlations, limited domain adaptability and performance drift, opaque models with untrustworthy explanations, and hallucinated outputs are some of the major technical failure modes that have been identified. Poor workflow integration, clinician overload and alert burden, insufficient training and audit trails, lack of MLDevOps/version control, and inadequate postmarket surveillance are the examples of organizational vulnerabilities. These risks can lead to clinically significant errors (such as missed blasts, unreported acute promyelocytic leukemia or sepsis, biased anemia, or malignancy predictions) and make it more difficult for clinicians, labs, vendors, and institutions to assign blame. Regulatory clearance by itself does not eliminate the requirement for lifecycle monitoring, local validation, and open, human oversight, and equity; economic adoption requires budgeting for acquisition, integration, validation, monitoring, training, and legal safeguards. CONCLUSION: AI promises efficiency and standardization in hematology but, without multicenter validation, continuous bias/drift surveillance, explainable and scope-limited interfaces, enforceable auditability/versioning, MLDevOps governance, mandated human-in-the-loop controls, staff education, clear patient communication, and robust vendor contracts, its deployment may introduce new safety risks and increase medicolegal exposure.
BACKGROUND: Helicobacter pylori is a widespread gastric bacterium that is linked to ulcers, chronic gastritis, and iron deficiency anemia (IDA); this paper examines its connection with anemia and determines the diagnostic value of histopathological biopsy in patients with a Baghdad GIT Center in Iraq. MATERIALS AND METHODS: The study was a prospective study on 70 patients who arrived at the Gastrointestinal Center of Medical City Teaching Hospital, Baghdad, Iraq, between August and December 2024, complaining of different gastrointestinal problems. The study included both male and female participants. For each patient, detailed demographic and clinical data were recorded. Laboratory investigations included complete blood count, peripheral blood smear examination for morphological assessment, and measurement of serum ferritin levels. RESULTS: The mean age was 34 years in groups 1 and 2 and 25 years in group 3. The most common symptoms were epigastric pain (30%), abdominal pain (21.43%), and dyspepsia (18.57%), with other features including nausea, vomiting, diarrhea, weight loss, and bleeding. Normochromic normocytic anemia (58.57%) was the most frequent type, followed by iron-deficiency anemia (41.43%). Patients were classified by hemoglobin levels into three groups (6–8, 9–11, and 12–15.7 g/dl). Significant differences were observed in hematological parameters, and Pearson correlation analysis revealed distinct group-specific relationships among Hb, hematocrit, red blood cell (RBC) indices, red blood cell distribution width (RDW), and serum ferritin. CONCLUSIONS: A type of anemia called normochromic normocytic anemia was the most common in people with H. Pylori chronic gastritis in the GIT center. It was followed by IDA. However, the results need to be repeated in a multicenter study in Iraq with a bigger population sample.
BACKGROUND: The chronic illness anemia is often mild-to-moderate normocytic normochromic anemia, which changes with time to become hypochromic or microcytic. OBJECTIVE: The objective of this study was to identify the biochemical and statistical predictors of iron-deficiency anemia (IDA) among patients presenting with normochromic normocytic anemia. METHODOLOGY: A cross-sectional observational study comprising 120 anemic patients visiting the outpatient clinic between May 2025 and November 2025. The parameters of complete blood count, serum ferritin, serum iron, and total iron-binding capacity (TIBC) have been tested, and transferrin saturation (TSAT) has been computed. RESULTS: Patients who had IDA were much younger and were mostly women in comparison to the normocytic anemia. There was no significant difference in hemoglobin, mean corpuscular volume, and red cell distribution width between the groups. The levels of ferritin, serum iron, and TSAT were much smaller, whereas the level of TIBC was much greater in the IDA group. Multivariate logistic regression found the independent predictors of IDA to be ferritin, serum iron, TIBC, and TSAT, but no significant predictive value in the red blood cell (RBC) indices. Correlation analysis proved the existence of physiologically consistent correlations between markers of iron profile parameters. CONCLUSION: IDA is prevalent in patients with normochromic normocytic anemia, and it cannot be excluded with the help of RBC indices. The use of iron profile parameters will help in making a correct diagnosis and early detection to enhance the clinical decision-making and management of patients.
BACKGROUND: Hemoglobinopathies are among the most common inherited disorders worldwide and represent a significant health burden in Iraq. High-performance liquid chromatography (HPLC) is considered a reliable and fast method for screening and diagnosis of β-thalassemia and hemoglobin variants. This study aimed to determine the frequency and pattern of hemoglobinopathies detected by HPLC and to evaluate their distribution according to age, sex, and Hb level. MATERIALS AND METHODS: This retrospective observational study was conducted at Imamein Kadhimein Medical City, Baghdad, Iraq, from November 2023 to December 2025. A total of 2,558 suspected cases of β-thalassemia trait and other hemoglobinopathies were reviewed. Inclusion required the availability of complete laboratory data, including complete blood count (CBC) and HPLC. Patients with incomplete laboratory data were excluded from the study. Based on CBC and HPLC findings, in addition to supplementary tests, cases were initially classified into normal and abnormal Hb HPLC patterns. Cases with abnormal Hb patterns were further categorized into carrier states, disease, or syndrome conditions. RESULTS: Among 2558 cases, 602 (23.5%) showed abnormal HPLC patterns. β-thalassemia trait was the most frequent diagnosis (19.7%), followed by sickle cell trait (1.3%), among total cases. Majority of the trait conditions were diagnosed in participants aged ≥12 years, while severe disorders presented mainly in early childhood (P = 0.003). Females represented 58.5% of cases (P = 0.122). Most of the patients (86.9%) had low Hb levels, with the lowest mean Hb observed in β⁰-thalassemia major. CONCLUSION: This study represents one of the main single-center HPLC-based Hb analyses for the diagnosis of hemoglobinopathy and demonstrates a substantial prevalence among suspected individuals, with β-thalassemia trait representing the predominant finding in our center. Thus, HPLC remains an effective frontline diagnostic tool for detecting both common and rare Hb variants, supporting early identification and appropriate clinical management.
BACKGROUND: Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder that predominantly affects the elderly and is characterized by bone marrow dysplasticity and cytopenia of the peripheral blood. Prompt and accurate diagnosis is essential for effective management and improvement of patient outcomes. However, current diagnostic standards rely on invasive and often inaccessible procedures such as bone marrow examination. OBJECTIVES: This study aimed to evaluate the diagnostic performance of a panel of noninvasive serum biomarkers, ferritin, beta-2 microglobulin (B2M), and lactate dehydrogenase (LDH), for the diagnosis of MDS in patients with unexplained cytopenias. MATERIALS AND METHODS: A case–control study was conducted involving 50 newly diagnosed patients with MDS and 50 healthy age- and sex-matched controls. Serum ferritin, B2M, LDH, and hepcidin levels were quantified using an enzyme-linked immunosorbent assay. RESULTS: Patients with MDS exhibited significantly elevated serum concentrations of ferritin, B2M, and LDH, as well as decreased levels of hepcidin compared to the control group. Ferritin demonstrated the highest individual diagnostic accuracy with an area under the curve (AUC) of 0.83. A combined panel of ferritin, B2M, and LDH yielded superior diagnostic performance, with an AUC of 0.88, sensitivity of 85%, and specificity of 82%. CONCLUSION: The serum biomarker panel comprising ferritin, B2M, and LDH demonstrates significant potential as a noninvasive tool for aiding in the diagnosis of MDS among patients presenting with unexplained cytopenias. To identify patients who warrant further investigation with more definitive procedures.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide, with the highest prevalence in African, Asian, and Mediterranean populations, typically presenting with hemolytic anemia. On the other hand, methemoglobinemia is a potentially life-threatening condition that occurs when oxidative agents lead to the formation of methemoglobin. We report a 20-month-old boy presenting with a 1-day history of vomiting and fever, appearing pale and dehydrated but not in distress. He was found to be hypoxic, which did not improve despite oxygen supplementation. Initially, the family reported a history of thalassemia, but further investigation revealed that the child was a carrier only. Upon further questioning, the family confirmed that the child had consumed a large amount of fava beans 2 days before presentation. The child was never diagnosed with G6PD disease, and he had eaten fava beans on several occasions with no history of hemolytic anemia. Lab results revealed non-immune hemolytic anemia, and serial arterial blood gases showed elevated methemoglobin level, which improved and resolved after repeated blood transfusions; low G6PD level confirmed the diagnosis. This case was challenging due to the patient’s atypical presentation with gastroenteritis-like symptoms; he was then found to have severe anemia with asymptomatic and oxygen-refractory hypoxia. Favism was suspected after further detailed history was taken. Although rare, the co-occurrence of these conditions can be life-threatening. Recognizing the risk of worsening hemolysis when treating with methylene blue in patients with G6PD is crucial; hence, early consideration of G6PD disease can alter management and potentially improve the outcome.
BACKGROUND: Hemophilia is an inherited X-linked bleeding disorder, characterized by the deficiency of coagulation factor VIII (hemophilia A) or factor IX (hemophilia B), leading to recurrent bleeding, chronic joint damage, and functional impairment. Beyond clinical manifestations, hemophilia substantially affects health-related quality of life (HRQoL). While HRQoL assessment is increasingly emphasized, predictive modeling approaches integrating clinical and patient-reported outcomes in hemophilia remain limited. OBJECTIVES: To explore the feasibility of data-driven predictive models for estimating HRQoL outcomes in adults with hemophilia using EuroQol five-dimension five-level (EQ-5D-5L)-derived measures. METHODOLOGY: This pilot, cross-sectional, observational study included adults (≥18 years) with mild or moderate hemophilia A or B attending a tertiary care hemophilia treatment center. HRQoL was assessed using the EQ-5D-5L questionnaire. For exploratory modeling, HRQoL was dichotomized into lower and higher categories based on the median utility score of the study sample. Demographic, clinical, and treatment-related variables were entered as predictors, with EQ-5D domain scores used exclusively for outcome derivation to avoid circularity. Supervised machine-learning models (logistic regression and random forest) were developed and evaluated using internal cross-validation. Model performance was assessed using accuracy, sensitivity, precision, and area under the receiver operating characteristic curve. RESULTS: Fifty participants were included (mean age 38.6 years), with 52% having mild and 48% moderate hemophilia. Poorer HRQoL was more frequent among individuals with moderate disease, target-joint pain, and mobility limitation. Logistic regression demonstrated high sensitivity for identifying the individuals with lower HRQoL, while Random Forest achieved higher overall accuracy and precision. Feature-importance analysis highlighted pain burden, mobility limitation, and disease severity as key contributors to HRQoL classification, with psychological well-being also showing relevance. CONCLUSION: This pilot study demonstrates the feasibility of applying supervised machine-learning models for HRQoL risk stratification in hemophilia using routinely collected clinical data. Disease severity, pain burden, mobility limitation, and psychosocial factors emerged as important determinants of HRQoL. These findings support the potential role of data-driven approaches in complementing traditional clinical assessment and guiding patient-centered care, warranting validation in larger, multicenter cohorts.
Superwarfarin, a potent rodenticide, can cause severe and prolonged anticoagulant effects, resulting in life-threatening bleeding in cases of accidental ingestion, which is especially challenging to diagnose in children, as the exposure may be unwitnessed and undetected by standard toxicology screens. We report the case of a young child who presented with significant, life-threatening bleeding. Initial management included intensive care support, transfusions, fresh frozen plasma, cryoprecipitate, and recombinant factor VII, all aimed at stabilizing the patient’s coagulopathy. Despite aggressive hemostatic support, bleeding continued, prompting further investigation. Eventually, superwarfarin ingestion was suspected, and high-dose Vitamin K therapy was initiated, continuing for several months due to the compound’s extended half-life. The child showed marked clinical improvement with sustained Vitamin K therapy, with regular international normalized ratio monitoring guiding dosage adjustments. This case highlights the diagnostic and therapeutic challenges of superwarfarin toxicity in pediatric patients, emphasizing the need for high clinical suspicion in cases of unexplained, persistent bleeding. It underscores the importance of multidisciplinary care and extended Vitamin K therapy for successful management. Awareness of this rare but serious cause of coagulopathy is essential for timely diagnosis and intervention.
BACKGROUND: ABO and Rhesus D (RhD) blood group systems are essential for transfusion safety. In Vietnam, the absence of domestically produced internal quality control (IQC) materials has resulted in reliance on costly and inconsistently supplied imported products or nonstandardized in-house controls. AIMS AND OBJECTIVES: To preliminarily assess the homogeneity, transport stability, and storage stability of the IQC material for ABO and RhD blood grouping. METHODOLOGY: An experimental study was conducted to produce eight IQC lots representing ABO and RhD blood group systems. A total of 272 samples were prepared. Homogeneity and stability were evaluated in accordance with ISO/IEC 17043:2023 and ISO 13528:2022 guidelines using column agglutination methods. The results were assessed using the predefined acceptance criteria and descriptive concordance analysis. RESULTS: Homogeneity testing demonstrated uniform serologic performance, with >95% of reactions exhibiting strong agglutination (≥3+) and 0% false positive results. All IQC lots (100%) met the predefined acceptance criteria and were classified as PASS. Transport stability at 2°C–8°C for 7 days showed complete retention of agglutination strength and specificity without hemolysis. Storage stability remained consistent for 6 weeks, with minor noninterpretive 4+ to 3+ shifts in <10% of samples. All stability assessments remained within acceptance limits. CONCLUSIONS: The IQC material for ABO and RhD blood grouping demonstrated satisfactory homogeneity and stability, meeting the ISO acceptance criteria. This supports the feasibility of domestic IQC production to improve quality assurance in transfusion laboratories in Vietnam. The findings should be interpreted in light of the limited sample size and study setting.
