Hematologic Abnormalities Research Articles

Abstract WMP114: Clonal hematopoiesis of indeterminate potential promotes the development of intracranial aneurysm rupture

Introduction: Clonal Hematopoiesis of Indeterminate Potential (CHIP) is characterized by the expansion of a blood-cell clone due to somatic mutation in hematopoietic stem cells, in the absence of other hematologic abnormalities. Initially, CHIP was identified as a risk factor for hematologic cancer, but recently, many studies have implicated it as a risk factor for cardiovascular disease. CHIP is also considered a risk factor for subarachnoid hemorrhage. However, the causality between CHIP and aneurysm rupture, as well as the mechanism by which CHIP promotes aneurysm rupture, remains unclear. Our study aimed to assess whether CHIP promotes the development of intracranial aneurysm rupture and investigate its mechanisms in mice. We induced intracranial aneurysms on chimeric mice with partial bone marrow transplantation of TET2-knockout hematopoietic stem cells, widely used to recapitulate human CHIP to test our hypothesis. Methods: We used competitive bone marrow transplantation as a model of CHIP. We used the C57BL/6 congenic mice that express the CD45.1 allele as a recipient and TET2-knockout mice that carry CD45.2 alleles as a donor. C57BL/6 CD45.1+/CD45.2- congenic mice were transplanted with suspensions of bone marrow cells containing 10% CD45.1-/CD45.2+ TET2-/- cells and 90% CD45.1+/CD45.2- TET2+/+ cells as a TET2-derived CHIP model. We induced intracranial aneurysms by a combination of elastase injection and DOCA-salt hypertension at 8 weeks later. We evaluated the formation and rupture rates of intracranial aneurysms and the survival curve. The qPCR was used to reveal molecular change in the intracranial artery. From the result of qPCR, we utilized IL-6 monoclonal antibody and NLRP3 inhibitor as a treatment for CHIP-related intracranial aneurysm rupture. Results: First, CHIP mice show clonal expansion of TET2-knockout cells in flow cytometry (Fig.1). Our studies demonstrated increased aneurysmal rupture rates in CHIP mice of both sexes (Fig.2). Second, Inflammatory cytokines including IL-6, IL-1β, and NLRP3 were elevated in qPCR (Fig.3). Lastly, both IL-6 monoclonal antibody and NLRP3 inflammasome inhibitor significantly decreased aneurysm rupture rate in CHIP mice. Conclusions: Our study showed that CHIP promotes the development of intracranial aneurysm rupture. Its mechanism is through the upregulation of inflammatory cytokines. Our findings suggest that IL-6 and NLRP3 are promising therapeutic targets for CHIP-related intracranial aneurysm rupture.

Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis

BackgroundLysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities. The specific cause of these hematopoietic defects—whether intrinsic to hematopoietic cells or driven by external factors—remains unclear. Given the limitations of current citrulline-based treatments and the unknown role of SLC7A7 in red blood cell production, there is an urgent need to investigate the pathways affected by SLC7A7 deficiency.MethodsWe employed total inducible and cell type-specific Slc7a7 knockout mouse models to determine whether the hematological abnormalities observed in LPI are due to the loss of Slc7a7 function in hematopoietic cells. We analyzed erythropoiesis in these mice and performed bone marrow transplantation experiments to assess the role of Slc7a7 in erythroblasts and myeloid cells. The statistical significance of differences between groups was evaluated via standard statistical tests, including Student’s t test and ANOVA.ResultsWhole-body Slc7a7 knockout mice presented impaired erythropoiesis. However, this defect was not replicated in mice with Slc7a7 deficiency restricted to erythroblasts or myeloid cells, suggesting that the observed hematopoietic abnormalities are not due to intrinsic Slc7a7 loss in these cell types. Additionally, bone marrow transplants from control mice did not rescue the hematopoietic defects in Slc7a7-deficient mice, nor did the transplantation of Slc7a7-deficient cells induce defects in control recipients. Further investigation indicated that defective erythropoiesis is linked to impaired erythropoietin production in the kidney and subsequent iron overload.ConclusionsThe hematopoietic defects in the Lysinuric protein intolerance mouse model are not caused by intrinsic Slc7a7 loss in hematopoietic cells but rather by impaired erythropoietin production in the kidney. This finding opens potential avenues for therapeutic strategies targeting erythropoietin production to address hematological abnormalities in humans with lysinuric protein intolerance.

Disproportionate vulnerability to and unique aggregation pattern of non-AIDS comorbidities among women with HIV in China

Abstract Background Whether and how sex plays differential roles in aging-related multimorbidity among people with HIV (PWH) is poorly characterized. Methods We included 2479 PWH and 5376 people without HIV (PWoH) from the baseline assessment of the Comparative HIV and Aging Research in Taizhou (CHART) cohort. Ten non-AIDS comorbidities (NACM) were investigated. Multiple logistic regression was used to assess the correlates of multimorbidity (defined as the coexistence of ≥2 NACM). Multimorbidity patterns were identified through hierarchical cluster analysis. Results The prevalence of multimorbidity was higher in PWH than in PWoH (74.6% vs. 66.9%, p < 0.001). This difference was particularly pronounced in women in each of the age groups from 18 through 59 years and among men in each of the age groups from 18 through 49 years. A significant interaction between sex and HIV on multimorbidity was identified (p < 0.001), with the strength of the association between HIV infection and multimorbidity being stronger in women than in men. Women with HIV presented a unique aggregation pattern of multimorbidity, where neuropsychiatric disorders (depression, neurocognitive impairment) clustered with cardiometabolic diseases. In contrast, all men and women without HIV manifested a similar multimorbidity pattern, where depression and neurocognitive impairment were clustered with hematologic abnormalities but not with cardiometabolic diseases. Conclusions Earlier onset and higher burden of multimorbidity in PWH, as well as disproportionate vulnerability to and unique multimorbidity pattern among women with HIV, underscore the urgent need for early and sexually-oriented integrative interventions and health services targeting multimorbidity in PWH.

P-159. Epidemiological and Clinical Characteristics of Dengue Fever in Patients Admitted at a Universitary Hospital

Abstract Background Dengue is the fastest spreading mosquito-borne viral infection, which affects people living in the tropical and subtropical countries and cause severe clinical symptoms and possibly death. We aimed to determine the epidemiological and clinical characteristics of patients with dengue fever and to find mortality predictors. Methods We conducted a retrospective observational study between November 2023 and April 2024 in five hospitals of Misiones, Argentina. Dengue virus infection was confirmed by a positive non-structural protein 1 test, IgM capture ELISA or RT-PCR. Clinical and laboratory patient details were collected by an electronic case report form. Results A total of 289 patients were documented. Overall mean age was 50 years (15-88). Over half (56%) of the patients were female. Common comorbidities: hypertension (36%), age >60 years (31%) and diabetes mellitus (18%). Signs and symptoms at hospital admission: fever (82%), asthenia (47%) and myalgias (33%). Most frequent warning signs at admission were abdominal pain 29%, vomiting 23% and drowsiness 22%. Frequent hematological and biochemical abnormalities: Hto >30% (83%), leukopenia < 4000 cells/mm3 (48%), thrombocytopenia severe and very severe (25%), ALT or AST >200 iu (16%) and creatinine >2 mg/dl (16%). Complications at any time during patient hospitalization: renal failure 15%, diarrhea 9% and acute respiratory distress syndrome (ARDS) 9%. Patients who required admission to the ICU 15%. Dengue classification: without warning signs 27%, with warning signs 61% and severe dengue 12%. Mortality associated with dengue 7%. Admission to ICU (aHR: 5.81 95% [CI 2.29-14.7]), ARDS (aHR: 5.44 [95% CI 2.25-13.17]) and platelet transfusion (aHR: 10.46 [95% CI 3.92-27.89]) were independently associated with increased mortality. Conclusion Our fatality rate was similar to the reported in other studies. Early recognition of warning signs and hematological monitoring is essential in order to detect patients at risk and offer them adequate early treatment. Disclosures Oliver A. Cornely, Prof. Dr., Abbott: Honoraria|Abbvie: Advisor/Consultant|Abbvie: Honoraria|AiCuris: Advisor/Consultant|Akademie fur Infektionmedizin: Honoraria|Al-Jazeera Pharmaceuticals/Hikma: Honoraria|amedes: Honoraria|AstraZeneca: Honoraria|Basilea: Advisor/Consultant|Biocon: Advisor/Consultant|BMBF: Grant/Research Support|Boston Strategic Partners: Advisor/Consultant|CIdara: Advisor/Consultant|CIdara: Expert Testimony|CIdara: Grant/Research Support|CIdara: Participation on a DRC or DSMB|CoRe Consulting: Stocks/Bonds (Private Company)|Deutscher Arzteverlag: Honoraria|DZIF: Grant/Research Support|EasyRadiology: Stocks/Bonds (Private Company)|EU-DG RTD: Grant/Research Support|F2G: Grant/Research Support|Gilead: Advisor/Consultant|Gilead: Grant/Research Support|Gilead: Honoraria|Grupo Biotoscana/United Medical/Knight: Honoraria|GSK: Advisor/Consultant|GSK: Honoraria|IQVIA: Advisor/Consultant|IQVIA: Participation on a DRC or DSMB|Janssen: Advisor/Consultant|Janssen: Participation on a DRC or DSMB|Matinas: Advisor/Consultant|MedPace: Advisor/Consultant|MedPace: Grant/Research Support|MedPace: Participation on a DRC or DSMB|Medscape/WebMD: Honoraria|MedUpdate: Honoraria|Menarini: Advisor/Consultant|Moderna: Honoraria|Molecular Partners: Advisor/Consultant|MSD: Grant/Research Support|MSD: Honoraria|MSG-ERC: Advisor/Consultant|Mundipharma: Advisor/Consultant|Mundipharma: Grant/Research Support|Mundipharma: Honoraria|Noscendo: Honoraria|Noxxon: Advisor/Consultant|Octapharma: Advisor/Consultant|Octapharma: Grant/Research Support|Pardes: Advisor/Consultant|Partner Therapeutics: Advisor/Consultant|Patent: US18/562644|Paul-Martini-Stiftung: Honoraria|Pfizer: Advisor/Consultant|Pfizer: Grant/Research Support|Pfizer: Honoraria|PSI: Advisor/Consultant|PSI: Participation on a DRC or DSMB|Pulmocide: Participation on a DRC or DSMB|Sandoz: Honoraria|Scynexis: Advisor/Consultant|Scynexis: Grant/Research Support|Seqirus: Advisor/Consultant|Seqirus: Honoraria|Seres: Advisor/Consultant|Shionogi: Advisor/Consultant|Shionogi: Honoraria|streamedup!: Honoraria|The Prime Meridian Group: Advisor/Consultant|Touch Independent: Honoraria|Vitis: Honoraria

Autoimmune Thrombocytopenia in Pregnancy: Insights from an Uncommon Case Presentation and Mini-Review

Thrombocytopenia, defined as a platelet count below 150 × 109/L, is the second most common hematological abnormality after anemia found among European women in the third trimester of pregnancy. Most of the cases are mild, asymptomatic, and diagnosed accidentally. The primary causes of thrombocytopenia are linked to the pregnancy itself and include gestational thrombocytopenia (GT), autoimmune thrombocytopenia (ITP), and pre-eclampsia or HELLP syndrome-associated thrombocytopenia. First-line therapies for ITP include corticosteroids and intravenous immunoglobulin (IVIG). We came across a case of severe thrombocytopenia (platelet count of 9 × 109/L) associated with severe anemia (Hb 5.9 g/dL) at 30 weeks of gestation, with no personal or family history of bleeding disorders. A comprehensive hematologic, infectious, and rheumatological workup was performed to narrow the diagnosis. Despite aggressive corticosteroid therapy and immunoglobulin treatment, the patient’s thrombocytopenia persisted, imposing delivery at 34 weeks. This article highlights the complex presentation and management of severe thrombocytopenia and anemia during pregnancy.

Alteration of Blood Parameters in Non-Dialyzed Patients of Chronic Kidney Disease

Chronic kidney disease (CKD) is a serious health problem that can lead to end-stage renal disease. Patients with CKD are usually suffered from anemia, which is one of the major consequences of kidney damage which in turn lead to reduce quality of life, increased risk of cardiovascular disease and cognitive impairment. The study aimed to assess the hematological abnormalities in the CKD patients during pre-dialyzed conditions in EL-Beyda City. The study was included 107 patients who are attended to Nephrology Department in EL-Bayda Medical Center in the period from November 2021 to March 2022. The study was included all CKD stages and were not on dialysis and they were following upped by these centers regularly each month. Data sources were obtained from the personal interview with patients and the records files in Nephrology units. Blood samples were taken in EDTA tube to measure complete blood counts (CBC) include hemoglobin (Hb), hematocrit (HCT), Mean cell volume (MCV), Mean cell hemoglobin (MCH), Mean cell hemoglobin concentration (MCHC), white blood cells (WBC) and platelets count (PLT), as well as renal function tests (blood urea and creatinine). The data were analyzed by Minitab version17. Out of 107 patients were included in this study, 63(58.8%) of patients were females and 44(41.1%) were males, The majority of patients had chronic diseases which could be the contributing cause of CKD; 62% were suffered from hypertension, 40% suffered from diabetes. Anemia was the main abnormality in our study which observed in 49 of participants (45.8%) while the others were non anemic accounting 54% (14.6±0.23). There was a significant difference in the mean of hemoglobin and hematocrit between anemic and non-anemic participants (p- value=0.000). Red cell indices showed normocytic normochromic anemia, thrombocytopenia was noticed in 7 (14%) of patients and leukocytosis was reported in 9 (18%) of them. We can conclude that developing of anemia in CKD patients is associated with poor outcomes and requires a careful management to avoid comorbidities.

Antarctic Krill Protein Amyloid Fibrils as a Novel Iron Carrier for the Improvement of Iron Deficiency.

Iron fortification with food supplements remains the primary dietary strategy for improving iron deficiency anemia (IDA). This study used Antarctic krill protein for fibrillar design to form an Antarctic krill protein amyloid fibril (AKAF). The results indicated that peptides generated by proteolysis were a prerequisite for fibril assembly, forming elongated fibril structures and cross-linking upon heating. During this process, hydrogen bonds were rearranged, forming ordered β-sheet conformations (49.36 ± 0.21%); π-π stacking interactions among aromatic residues contributed to fibril formation. Further studies showed that AKAF effectively maintained iron in a bioavailable state and exhibited a high binding capacity (60.67 ± 0.69%). Moreover, the AKAF-iron complex markedly ameliorated hematological abnormalities in IDA mice, enhanced iron storage in the liver and spleen, and positively influenced the expression of iron homeostasis genes. This complex was also effective in alleviating gastric inflammatory responses induced by IDA. Overall, AKAF holds promise as an efficient iron delivery carrier.

Inefficient Dialysis and Hematological Abnormalities in End-Stage Renal Disease Patients: A Cross-Sectional Study

Purpose: End-stage renal disease (ESKD) necessitates hemodialysis, a life-sustaining therapy that mimics kidney function. This study aimed to investigate the association between markers of inadequate dialysis efficacy and the prevalence of hematological abnormalities in patients undergoing hemodialysis. Methods: A cross-sectional study was conducted among 61 patients receiving hemodialysis at Mesallata Central Hospital, Libya, in October 2024. Data were collected on hematological parameters (white blood cell count, hemoglobin, mean corpuscular volume, and platelet count) and laboratory markers of dialysis adequacy, including blood urea nitrogen (BUN), serum creatinine, and Kt/V values. Statistical analyses assessed correlations between dialysis adequacy markers and hematological abnormalities. Results: The findings revealed significant associations between elevated BUN and serum creatinine levels, lower Kt/V values, and the presence of anemia and thrombocytopenia. Suboptimal dialysis adequacy (Kt/V < 1.2) was observed in 67.2% of patients. Anemia was prevalent, with 75.4% of patients exhibiting low hemoglobin levels and 77% and 86.9% showing reduced mean corpuscular volume and hemoglobin levels, respectively. Elevated white blood cell counts were present in 23% of patients. Significant correlations were found between Kt/V values and serum creatinine (r = -0.68, p < 0.01) as well as hemoglobin levels (r = 0.45, p < 0.01). Conclusion: These results suggest a potential link between inadequate dialysis efficacy and hematological abnormalities in hemodialysis patients. Optimizing dialysis protocols and continuous monitoring are essential to improve patient outcomes and address these complications.

Characterization and Confirmation of Mildly Unstable Hb Pontoise or α1 63(E12) Ala > Asp and Literature Review

Genotype-phenotype correlation and potential genetic risk in the compound heterozygosity for unstable hemoglobins (UHbs) and α0-thalassemia were discussed. Capillary electrophoresis and gene sequencing helped to establish the diagnosis. Hematological analysis showed the following findings: MCV 80.6 fL, MCH 27 pg, HGB 133 g/L, RBC 4.93 × 1012/L, Hb A: 94%, Hb X: 3.6% (zone 12) and Hb A2: 2.4%. DNA analysis revealed the patient was a Hb Pontoise carrier (HBA1: c.191C > A). Hb Pontoise resulted from an GCC > GAC substitution at codon 63 of the HBA1 genes, but carriers were usually asymptomatic or with only borderline hematological abnormalities. Due to mild instability of Hb Pontoise, its diagnosis relied on genetic diagnosis. Considering the high frequency of thalassemia in South China, accurate genotyping and appropriate genetic counseling should be performed for unstable hemoglobin carriers.

Multifocal osteochondromatous proliferation and paraneoplastic hematologic dyscrasia in the context of latent Epstein-Barr virus reactivation: a case of oncologic and infectious pathophysiology.

This case report describes a 15-year-old male with multifocal osteochondromatous proliferation and paraneoplastic hematologic dyscrasia, linked to latent Epstein-Barr virus reactivation. Radiographic and advanced imaging revealed widespread skeletal lesions consistent with osteochondromatosis. Hematologic evaluation indicated pancytopenia with dysplastic megakaryocytes and marrow infiltration. Immunohistochemical staining confirmed latent Epstein-Barr virus infection, suggesting its role in the pathogenesis of both the osteochondromatous and hematologic abnormalities. This case highlights the correlation between Epstein-Barr virus reactivation, bone proliferation, and paraneoplastic hematologic processes, which we believe has not yet been reported in the literature, emphasizing the need for a comprehensive diagnostic approach.

Evaluation of Complete Blood Count in Chronic Lymphoid Leukemia Patients

Chronic Lymphoid Leukemia (CLL) is characterized by the uncontrolled proliferation of lymphocytes, usually in the elderly, which can lead to various hematological abnormalities in patients. Analysis of hematological parameters is very important for the diagnosis, prognosis, and monitoring of treatment response in CLL. This study aimed to compare the complete blood count (CBC) parameters of CLL patients with a healthy control group. The study included 50 patients diagnosed with CLL and 50 healthy controls without a history of cancer. CBC parameters (WBC, RBC, HGB, HCT, MCV, MCH, MCHC, RDW, RDW-SD, PDW, PLT, MPV, PCT, NEU%, LYM%, MONO%, EOS%, BASO%, NEU#, LYM#, MONO#, EOS#, BASO#, NRBC#) of CLL patients and control group were statistically compared. According to the analysis results, no significant difference was found between MCV, RDW, RDW-SD, PDW, MPV, BASO%, NEU#, and EOS# values of the patient and control groups (p>0.05). However, WBC, RBC, HGB, HCT, LYM%, MONO%, LYM#, MONO#, BASO#, and NRBC# values of the patient group were significantly higher relative to the control group (p<0.05). MCH, MCHC, PLT, PCT, NEU%, and EOS% parameters were significantly higher in the control group relative to the patient group (p<0.05). As a result, significant differences were observed in some CBC parameters between patients and the control groups. Particularly, the significant difference observed in some parameters emphasizes that the hematological profile of CLL can be used in the diagnosis and monitoring processes. Our findings support

Interest of Immature Platelet Fraction (IPF) in the Etiological Diagnosis of Thrombocytopenia.

Background: Thrombocytopenia is a common hematological abnormality with diverse etiologies, including peripheral platelet destruction and central production failure. The Immature Platelet Fraction (IPF) is a new parameter that quantifies reticulated platelets and provides an indication of the quality of thrombopoiesis. Objective: This study aimed to evaluate the diagnostic utility of IPF in distinguishing thrombocytopenia etiologies. Methods: A prospective cross-sectional study was conducted on 120 thrombocytopenic patients for over two months at the Hematology Laboratory of Arrazi Hospital, Marrakesh. IPF was measured using a Sysmex XE-5000 analyzer. Statistical analyses included the Mann-Whitney U test, Kolmogorov-Smirnov test, and Receiver Operating Characteristic (ROC) curves to determine the IPF cutoff values and diagnostic accuracy. Results: The cohort included 46,7% males and 53,3% females, with a median age of 44 years. The median IPF was 8,0% [1.5–40,6%], with significantly higher values for peripheral thrombocytopenia (9,5%) than for central thrombocytopenia (6,0%; p = 0.019). ROC analysis yielded an Area Under the Curve (AUC) of 0,65, with a cutoff value of 8,1% (sensitivity, 65,9%; specificity, 78,6%). The Kolmogorov-Smirnov test confirmed significant differences in distribution between the groups (p = 0,003). Conclusion: IPF provides significant insights into thrombocytopenia etiologies, with higher levels observed in peripheral cases. While its moderate discriminatory capacity suggests the need for complementary diagnostic tools such as bone marrow aspiration in central thrombocytopenia. IPF remains a promising marker for improving the diagnostic accuracy in thrombocytopenia management. Standardization of cutoff values and larger studies are needed to refine its clinical application.

Clinical and Hematological Characteristics of Vitamin B12 Deficiency and Evaluation of the Therapeutic Response to Vitamin B12 Supplementation.

Background Vitamin B12 deficiency, or cobalamin deficiency, is common among populations with low consumption of animal-based products, mainly in India, due to religious and socioeconomic factors, which significantly increase the deficiency rate. The condition has been characterized by a wide range of clinical and hematological symptoms, mainly affecting the blood and nervous system. This study aims to assess the clinical and hematological characteristics of patients with vitamin B12 deficiency and assess the therapeutic response to supplementation with vitamin B12. Methodology This two-year, in-hospital study was conducted at K. J. Somaiya Medical College and Hospital. The study involved 180 patients aged between 18 and 70 years with hemoglobin below 13 g/dL for males, less than 12 g/dL for females, and serum vitamin B12 levels below 250 pg/mL. Data on demographic and clinical characteristics of the patients, along with hematological parameters, including complete blood count, peripheral smear, reticulocyte count, and bone marrow examination, were collected. Each patient received six intramuscular injections per week of 1,000 µg of vitamin B12. The hematological parameters were measured at different follow-up intervals, and the therapeutic response was measured using the one-way analysis of variance. We employed Pearson's correlation coefficient to investigate the relationship between the severity of anemia and vitamin B12 level. Results The study showed a higher prevalence of male patients, accounting for 105 (58.3%) of the sample, with the majority of patients aged between 46 and 60 years, totaling 70 (38.9%). Common comorbidities included hypertension in 60 (33.3%) and diabetes in 45 (25%) patients. The most frequently reported symptom was fatigue, present in 120 (66.7%) patients, followed by neurological symptoms such as tingling and numbness in the extremities reported by 98 (54.4%) patients. Baseline hematological assessments indicated macrocytic anemia, with a mean hemoglobin level of 9.7 g/dL and an elevated mean corpuscular volume (MCV) of 104.7 fL. At the end of six weeks of vitamin B12 therapy, there were notable improvements, with hemoglobin levels rising to 12.6 g/dL, MCV decreasing to 91.3 fL, and reticulocyte count increasing to 2.1%. A strong positive correlation was observed between hemoglobin levels and serum vitamin B12 concentrations (r = 0.75, p < 0.001). Conclusions Vitamin B12 deficiency leads to clinical and hematological abnormalities, including macrocytic anemia and neurological symptoms. This study demonstrates that vitamin B12 supplementation effectively reverses these abnormalities, improving both hematological and neurological outcomes. Given the prevalence of deficiency, routine screening and supplementation are recommended, particularly for at-risk populations such as vegetarians and older adults. Further research is needed to assess the long-term effects of supplementation, particularly its potential role in reducing cardiovascular risk in individuals with vitamin B12 deficiency.

Variant Philadelphia Chromosome: A Report of Two Cases at the Moulay El Hassan Military Hospital, Guelmim

Introduction: Chronic myeloid leukemia (CML) is a malignant hematologic disorder characterized by the t (9;22) chromosomal translocation, forming the Philadelphia chromosome. In rare instances, complex translocations involving other chromosomes, such as t(3;9;22), are observed. This study presents two clinical cases of CML with this cytogenetic abnormality, diagnosed at the Moulay El Hassan Military Hospital in Guelmim. Methodology: Patients were examined for symptoms suggestive of CML, such as chronic fatigue, splenomegaly, and hematologic abnormalities. Cytogenetic and molecular analyses were performed to identify chromosomal abnormalities. Results: Both cases demonstrate the impact of complex translocations on diagnosis and management. Cytogenetic data, in addition to clinical findings, guided treatment with tyrosine kinase inhibitors. Discussion: Complex translocations are associated with diagnostic and therapeutic challenges. A literature review shows that these abnormalities influence treatment response and prognosis, although further data are needed to consolidate these observations. Conclusion: This study illustrates the importance of detailed cytogenetic evaluation in the management of CML, particularly for complex translocations such as t(3;9;22).

Hematological Changes in Clozapine Users: A Study in a Brazilian Community Sample.

Clozapine is the only antipsychotic with proven superior efficacy for treatment-resistant schizophrenia. However, global utilization rates remain suboptimal due to concerns about hematological side effects. This study aimed to investigate hematological abnormalities among clozapine users at a large community center in the Brazilian countryside. This study adopts a real-world approach and was conducted based on a retrospectively analyzed complete blood counts from clozapine users in Goiás, Brazil. We describe the total number and percentage of participants presenting blood dyscrasias. Logistic regression models, using Stata v.18, were employed to evaluate whether sex or age were associated with the presentation of neutropenia. Data from 6,160 complete blood counts from 486 patients taken between 2011 and 2018 were analyzed. Blood dyscrasias were observed in 37.4% of patients, with anemia being the most common (23.6%), followed by thrombocytopenia (9.46%) and eosinophilia (13.7%). Neutropenia occurred in 4.52% of patients, primarily mild (3.9%) and moderate (0.62%), with no cases of agranulocytosis identified. Clozapine users showed a higher prevalence of blood dyscrasias compared to the overall Brazilian population. Most cases of neutropenia were mild and transient. Our results suggest a lower risk of severe neutropenia and emphasize the need to investigate other blood dyscrasias.

Clinical and Hematological Manifestations of Systemic Lupus Erythematosus at Initial Presentation in a Tertiary Healthcare Center.

Background Systemic Lupus Erythematosus (SLE) is a multifaceted autoimmune disorder with diverse clinical presentations, among which hematological abnormalities often serve as early and critical indicators of disease. These manifestations, including anemia, leukopenia, lymphopenia, and thrombocytopenia, correlate with disease activity and provide essential diagnostic insights, particularly in resource-limited settings where access to advanced diagnostic tools may be constrained. This study emphasizes the significance of hematological findings thatfrequently appear at the initial presentation of SLE. Theycan guide early diagnosis and management, thereby improving patient outcomes. Objective This study aims to identify and analyze the clinical and hematological manifestations of SLE at initial presentation in a tertiary healthcare center. Itfocuses on hematological abnormalities as critical early indicators and highlights typical and atypical features that can aid in timely and accurate diagnosis. Methods A retrospective observational study was conducted at the dermatology department of the Great Eastern Medical School & Hospital. It included53 patients diagnosed with SLE according to the Systemic Lupus International Collaborating Clinics (SLICC) criteria. Demographic data, clinical symptoms, hematological abnormalities, and immunological markers were recorded. The frequency and types of atypical manifestations were also noted. Results The study sample comprised 45 (85%) female patients and 8 (15%) male patients, with a mean age of 26 years. Common clinical manifestations included fever 49 (92%), joint pain 45 (85%), fatigue 43 (81%), oral ulcers 40 (75%), malar rash 40 (75%), and photosensitivity 44 (83%). Hematological abnormalities were prominent, with anemia observed in 52 (98%) of patients, leukopenia in 49 (92%), lymphopenia in 45 (85%), and thrombocytopenia in 20 (38%). Antinuclear antibody (ANA) test was positive in all cases, with elevated erythrocyte sedimentation rate (ESR) and CRP levels in newly-diagnosed patients. Atypical presentations included angioedema, toxic epidermal necrolysis (TEN)-like lesions, psoriasiform lesions, and pyrexia of unknown origin. Conclusion This study underscores the critical need to identify both typical and atypical clinical and hematological features of SLE, particularly at the initial presentation. Integrating comprehensive clinical evaluation with basic laboratory investigations can significantly enhance early detection, paving the way for timely and effective management to improve patient outcomes.

Effectiveness and safety of Belimumab and Telitacicept in systemic lupus erythematosus: a real-world, retrospective, observational study.

To examine the effectiveness and safety of two different B cell activating factor/proliferation-inducing ligand inhibitors, telitacicept and belimumab, in treating patients with active systemic lupus erythematosus (SLE). Patients with active SLE who received belimumab (n = 100) or telitacicept (n = 101) from 2019 to 2023 at multiple centers in China were retrospectively collected, and the effectiveness and safety of telitacicept and belimumab was evaluated. The subgroups of lupus nephritis and hematologic abnormalities were analyzed to explore if there were any differences in the efficacy of the two biologics on improving kidney and blood systems. Propensity score-based inverse probability of treatment weighting (IPTW) was used to reduce selection bias. No significant between-group differences in patient characteristics were observed after adjustment by IPTW. The proportion of SLE Responder Index 4 at 24weeks was significantly higher in the telitacicept group (p = 0.031), but no significant difference was observed in 52weeks follow-up data. More significant improvements were observed in telitacicept group for C4 and a larger decrease was observed in telitacicept group for IgA and IgM levels at 4 weeks. A better improvement of hemoglobin in anemia patients from the telitacicept group at 24weeks was observed. There were no significant differences in kidney effectiveness and treatment-related adverse events differences between the two groups. Patients receiving telitacicept showed a higher SRI-4 rate compared to those receiving belimumab at 24weeks. Due to the real-world nature of this study and the limitation of IPTW application, further extensive investigations in larger cohorts and head-to-head clinical trials are required to validate these findings. Key Points • The telitacicept group displayed a higher SRI-4 rate at 24weeks and a more substantial improvement in serological indices at 4weeks. • No differences were observed in the effectiveness in lupus nephritis patients between belimumab and telitacicept groups. • A better improvement of hemoglobin in anemia patients at 24 weeks was observed in telitacicept group.

ARDS as the First Manifestation of Latent Multiple Myeloma: A Case Report

Acute respiratory distress syndrome (ARDS) is a medical emergency characterized by severe hypoxemia and alveolar-capillary damage leading to non-cardiogenic pulmonary edema. While commonly associated with severe infections, it can also reveal underlying conditions such as hematological diseases. Multiple myeloma, a plasma cell cancer, is often complicated by severe infections due to the immunosuppression it induces, but its association with ARDS remains rare and poorly understood. This relationship could be explained by shared immune, inflammatory, and vascular mechanisms. We report the case of a 61-year-old man admitted for severe pneumonia complicated by ARDS. Imaging and biological investigations led to the incidental discovery of latent multiple myeloma, with lytic bone lesions and hematological abnormalities. The objective of this article is to explore the underlying pathophysiological mechanisms of this association, analyze its clinical implications, and propose a multidisciplinary approach for managing this rare and complex condition.

The Pattern of Hematological Abnormalities in NS1 Positive Dengue Patients: A Study in a Tertiary Care Hospital in Bangladesh

Background: Dengue fever, caused by a mosquito-borne arbovirus, is characterized by painful febrile symptoms. Hematological abnormalities are frequently observed, especially in patients testing positive for NS1 antigen. NS1 antigen, a protein generated by the dengue virus during acute infection, is detectable in the blood of infected individuals. This study aimed to assess the pattern of hematological abnormalities in NS1-positive dengue patients. Methods: This prospective cross-sectional study was conducted in the Department of Medicine, Comilla Medical College, Cumilla, Bangladesh from July 2022 to June 2023. A total of 137 dengue patients who tested positive for NS1 were included as study subjects, selected through purposive sampling. Data processing and analysis were conducted using Office tools. Results: In this study, among our total participants, the mean ±SD hemoglobin was 13.2±1.8 g/dl, hematocrit was 39.4±5.4%, leucocyte count was 7.7±5.8 x109/L, neutrophil count was 5.5±1.3 x109/L, and lymphocyte count was 3.7±1.2 x109/L, all of which were within normal ranges. However, the mean ±SD platelet level was found to be 98.1±58.1 x109/L, which was abnormally lower. Conclusion: Among NS1-positive dengue patients, hematological assessment reveals normal levels of hemoglobin, hematocrit, leucocytes, neutrophils, and lymphocytes. Although the mean hematocrit value is typically normal, a significant number of cases show values either higher or lower than the normal range. However, platelet levels are notably lower. J Com Med Col Teachers Asso July 2024; 28(2): 82-86

Thrombocytopenia in newly diagnosed cases of liver cirrhosis

Aim: The aim of this study was to determine the incidence of thrombocytopenia in cases with liver cirrhosis and its relationship with the severity of the disease. A retrospective study of cases with liver cirrhosis was conducted out from 2017 to 2021. The information was collected from the patient&amp;rsquo;s hospital records at their first admission. The study group included 361 individuals over the age of 18 - 258 (71%) men and 103 (29%) women. A platelet count below 150 G/L was considered an indicator of thrombocytopenia. Results were analized using IBM SPSS 26 and E&amp;#1093;c&amp;#1077;l statistics. Results: Thrombocytopenia was found in 171 (47.4%) subjects. In 45 (26%) cases, accounting for 12.46% of the studied population with cirrhosis, thrombocytopenia was not accompanied by hematological abnormalities. There was no statistical relationship between the Child-Pough stage and the presence of thrombocytopenia (p = .400) and no statistically significant differences in platelet counts among the three Child-Pough stages (p = .205). The thrombocytopenia cases had a higher MELD Na than those without, with a statistically significant difference between the two groups (p = .002). Of the thrombocytopenia cases, 73.7% had oesophageal varices (p = 0.000). A cut-off value of 181G/L with 73% sensitivity and 54.5% specificity for predicting the occurrence of varices was established. There was no statistical association between thrombocytopenia and portosystemic encephalopathy (PSE); (p = .591). Thrombocytopenia is an important laboratory finding in the progression of portal hypertension in liver cirrhosis. An isolated finding also requires ruling out chronic liver disease and endoscopic examination to exclude oesophageal varices.