Hyde E, Saker J, Kennedy S
… +2 more, Anthony M, Vatish M
Int J Lab Hematol
· 2026 Feb · PMID 41198248
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INTRODUCTION: Accurate complete blood count (CBC) reference intervals are essential for neonatal care. However, existing reference intervals do not account for key clinical variables such as sex, postnatal age, gestation...INTRODUCTION: Accurate complete blood count (CBC) reference intervals are essential for neonatal care. However, existing reference intervals do not account for key clinical variables such as sex, postnatal age, gestational age at birth and corticosteroid exposure. This study aims to establish updated CBC reference intervals for neonates admitted to a Neonatal Intensive Care Unit (NICU) while evaluating the effects of these factors on the CBC. METHODS: In this retrospective cohort study, all neonates admitted to the NICU at the John Radcliffe Hospital (Oxford, United Kingdom) between January 2022 and January 2023 were eligible for inclusion. Routine CBCs were included if there was no suspicion of infection or necrotising enterocolitis, no recent surgical interventions and no signs of clinical deterioration. The effects of sex, gestational age at birth and postnatal age were assessed for 48 parameters of the CBC using multivariate ANOVAs. Reference intervals were calculated at the 95% level. RESULTS: Among 3490 CBC results from 587 neonates, 386 results from 196 neonates met inclusion criteria. Sex-related differences were observed in nine parameters. Gestational and postnatal age both significantly influenced 34 parameters. Reference intervals were produced for all 48 CBC parameters, with histograms and boxplots illustrating variations by sex, postnatal age and gestational age. Secondary analyses highlighted the effects of corticosteroid exposure. CONCLUSIONS: We present reference intervals for 48 neonatal CBC parameters, highlighting the influence of sex, postnatal age, gestational age at birth and corticosteroid exposure. These findings improve the interpretation of neonatal CBCs and propose criteria for defining a sufficiently healthy neonatal population for diagnostic research.
Wood RK, Elsharawi I, Goudie M
… +3 more, Bruyère H, Rahmani M, Gillan TL
Int J Lab Hematol
· 2026 Jun · PMID 41157957
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Chronic lymphocytic leukemia (CLL) is the most common low-grade B-cell neoplasm worldwide. While diagnostic criteria are well established, prognostication and management of this disease are an evolving field, owing to th...Chronic lymphocytic leukemia (CLL) is the most common low-grade B-cell neoplasm worldwide. While diagnostic criteria are well established, prognostication and management of this disease are an evolving field, owing to the biological and clinical heterogeneity of CLL. Molecular, cytogenetic, and immunogenetic workup are key in the management of CLL, and include evaluation for specific gene variants, copy number variants (CNVs), and detailed analysis of the immunoglobulin heavy chain variable region (IGHV) with respect to somatic hypermutation (SHM) status and the presence of recurrent stereotyped IGHV subsets. IGHV status has significant prognostic, predictive, and therapeutic implications in CLL and has been incorporated into multiple risk stratification systems. The advent of both next-generation sequencing (NGS) and novel targeted therapies has added further complexity to immunogenetic analysis in CLL. Owing to the necessity and growing complexity of IGHV analysis, the European Research Initiative on CLL (ERIC) developed guidelines to standardize methods for immunogenetic analysis and provide recommendations for interpretation of challenging cases (including multiple productive IGHV clones and discordant SHM status) and has published multiple updates, revising recommendations and raising new questions. This review discusses the biology and clinical significance of IGHV status in CLL as well as laboratory methodology in immunogenetic analysis, the evolution of the ERIC recommendations leading into the era of NGS, and recent advances and emerging strategies in this field.
INTRODUCTION: Coagulation tests are crucial for diagnosing hemostatic disorders. However, preanalytical errors, particularly sample clotting, may compromise test accuracy and lead to clinical misinterpretation. As not al...INTRODUCTION: Coagulation tests are crucial for diagnosing hemostatic disorders. However, preanalytical errors, particularly sample clotting, may compromise test accuracy and lead to clinical misinterpretation. As not all clots are detectable by visual inspection, this study characterized clotted citrated samples to establish objective criteria for clot identification. METHODS: Routine coagulation assays-including PT, APTT, fibrinogen, D-dimer, FDP, fibrin monomer complex (FMC), plasmin-α2 plasmin inhibitor complex (PIC), and thrombin-antithrombin complex (TAT)-were performed, and 101 paired specimens from 101 patients who required blood recollection were analyzed. Among the 77 specimens with visible clots, coagulation profiles were analyzed to identify cut-off values and develop logistic regression models. The models were subsequently validated using an additional 24 abnormal but clot-free specimens. RESULTS: Clotted samples showed significantly shortened APTT and elevated FDP, FMC, PIC, and TAT levels. Shortening of APTT by ≥ 3.1 s relative to the reference was a reliable indicator of clotting. Combining APTT with TAT or FMC provided high diagnostic accuracy (AUC: 0.969 and 1.000, respectively). We established a "Clotting Score" to assess sample viability even without visible clots. FDP and PIC increased progressively with time in clotted samples. CONCLUSION: Sample clotting substantially affects the accuracy of coagulation tests. Shortened APTT and elevated FMC and TAT serve as reliable indicators, with FDP and PIC offering time-sensitive supplementary clues. This multimodal approach could help standardize criteria for sample rejection and recollection, thereby improving test reliability and supporting clinical decisions.
Int J Lab Hematol
· 2026 Feb · PMID 41097996
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OBJECTIVES: Anemia is a significant global health concern, with hypochromic microcytic anemia being the most common type. Among its causes, β-thalassemia trait (β-TT) and iron deficiency anemia (IDA) share similar hemato...OBJECTIVES: Anemia is a significant global health concern, with hypochromic microcytic anemia being the most common type. Among its causes, β-thalassemia trait (β-TT) and iron deficiency anemia (IDA) share similar hematological features, making differentiation challenging. We aimed to develop machine learning (ML) models using routine red blood cell (RBC) indices to distinguish β-TT, IDA, and healthy cases. METHODS: A total of 8106 individuals (3378 healthy, 2696 IDA, 2032 β-TT) were included in this study. Six RBC parameters-RBC count, hemoglobin (HGB), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), MCH concentration (MCHC), and RBC distribution width (RDW-CV)-were used to train eXtreme gradient boosting (XGB), random forest (RF), and neural network (NN) models. The dataset was split into training (70%) and testing (30%) sets, with feature importance assessed via the Boruta algorithm. All statistical analyses were performed using R version 4.3.1 Statistical Language. RESULTS: All models achieved high accuracy (> 97%), with RF demonstrating superior performance (97.86% accuracy, 99.71% AUC). The most significant features contributing to the models are MCH for the XGB algorithm, MCV for the RF algorithm, and HGB for the NN algorithm. CONCLUSIONS: Our findings demonstrate that ML-based models could offer a promising tool for improving β-TT detection, optimizing clinical workflows, and enhancing resource utilization in hematology.
Goel N, Mehndiratta S, Batra S
… +6 more, Singh A, Prabhakar P, Misra A, Rishi B, Chopra N, Ray S
Int J Lab Hematol
· 2026 Feb · PMID 41090541
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PURPOSE: Pediatric hypereosinophilia (HE) is rare, and its evaluation is challenging due to diverse etiologies and limited access to advanced laboratory testing in low- and middle-income countries (LMICs). METHODS: We re...PURPOSE: Pediatric hypereosinophilia (HE) is rare, and its evaluation is challenging due to diverse etiologies and limited access to advanced laboratory testing in low- and middle-income countries (LMICs). METHODS: We retrospectively analyzed five children with HE (absolute eosinophil count > 5.0 × 10/L) evaluated at a tertiary center. Clinical, hematologic, and molecular findings were reviewed, and diagnostic timelines were compared between clonal and non-clonal cases. Based on these observations, a tiered, laboratory-driven diagnostic pathway adapted for LMICs was developed. RESULTS: Five patients (median age: 6 years; range: 1.5-10 years) were included. The median absolute eosinophil count (AEC) at presentation was 12.8 × 10/L (range: 6.5-21.5 × 10/L). Three cases (60%) were clonal eosinophilia-one PDGFRB-rearranged myeloid/lymphoid neoplasm and two acute myeloid leukemia subtypes [AML with CBFB::MYH11, AML with RUNX1::RUNX1T1]-and two cases (40%) were non-clonal [one Hyper-IgE syndrome with secondary hemophagocytic lymphohistiocytosis (HLH), one secondary eosinophilia (drug-induced, phenytoin/phenobarbitone)]. Clonal cases demonstrated higher leukocyte counts, earlier bone marrow and molecular testing, and shorter median time to diagnosis (6 vs. 14 days), enabling prompt initiation of imatinib or AML-directed therapy with remission in all. In contrast, non-clonal HE required sequential exclusion of clonal disease, delaying immunosuppressive or drug-withdrawal strategies. CONCLUSION: A structured, laboratory-driven algorithm beginning with blood counts, smear, and parasitic testing, and escalating to early bone marrow with cytogenetic/molecular studies for high-risk phenotypes, enabled timely identification of clonal HE while conserving resources in reactive cases. This LMIC-adapted pathway highlights laboratory turnaround time as a critical determinant of outcomes and provides a practical framework for pediatric HE evaluation.
Bingyao Z, Xuxi Z, Zhaoqiang F
… +2 more, Qian Y, Youwen Q
Int J Lab Hematol
· 2026 Feb · PMID 41090536
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OBJECTIVE: This study aims to analyze the expression patterns of CD371 in CD34CD117 bone marrow (BM) cells from patients with primary myelofibrosis (PMF) using flow cytometry (FCM), with a comparative evaluation against...OBJECTIVE: This study aims to analyze the expression patterns of CD371 in CD34CD117 bone marrow (BM) cells from patients with primary myelofibrosis (PMF) using flow cytometry (FCM), with a comparative evaluation against conventional antigens to assess its potential clinical utility for identifying aberrant immunophenotypes in PMF. METHODS: A retrospective analysis was conducted on BM samples from 26 PMF patients and 20 control individuals. We evaluated the proportions of CD34CD117 cells and basophils, as well as the expression profiles-including positive cell percentages, mean fluorescence intensity (MFI), and coefficient of variation (CV) of MFI-of CD371, CD34, CD117, CD13, CD33, CD123, CD38, HLA-DR, and CD7 within the CD34CD117 population. RESULTS: Control group exhibited consistent bimodal CD371 expression, while PMF samples showed three distinct patterns. PMF demonstrated significant differences vs. controls in CD371 MFI (p < 0.01), MFI CV (p < 0.01), and CD371 cell proportion (p < 0.05). Within CD371 cells, MFI and MFI CV also differed significantly (both p < 0.01). Significant differences (p < 0.01) were observed in: CD34CD117 proportion, CD34 MFI/MFI CV, basophil proportion, CD38 proportion/CD38 MFI/MFI CV. No significant differences were observed for CD13 cell proportion (p = 0.154) or CD13 MFI (p = 0.835), though the MFI CV was significantly different (p < 0.01). CD33 cell proportion (p < 0.05) and CD33 MFI (p < 0.05) showed significant differences, while the MFI CV did not (p = 0.276). CONCLUSION: This study provides the first characterization of CD371 expression patterns in PMF, showing significantly different expression profiles compared to controls. While CD371 demonstrated comparable performance to standard markers (CD34/CD38/CD13/CD33) and showed better discrimination than CD123/HLA-DR, these preliminary findings suggest its potential utility for: (1) identifying abnormal CD34CD117 populations in PMF, and (2) possible integration into routine clinical workflows, pending further validation in larger cohorts.
Int J Lab Hematol
· 2026 Jun · PMID 41058066
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With the advent of effective multikinase and selective tyrosine kinase inhibitors in systemic mastocytosis, diagnosing this rare disease has been critical to improving patient morbidity and mortality. This state-of-the-a...With the advent of effective multikinase and selective tyrosine kinase inhibitors in systemic mastocytosis, diagnosing this rare disease has been critical to improving patient morbidity and mortality. This state-of-the-art review interprets the international diagnostic criteria, including differences between the WHO 5th edition classification and the International Consensus Classification. Subclassification of systemic mastocytosis is critical for correct therapeutic strategies, and diagnostic difficulties are described for the practicing pathologist. Morphologic mimics, which require alternative treatment, are discussed.
Wickstrøm KE, Holten AR, Prebensen C
… +3 more, Köhn-Luque A, Vitelli V, Amundsen EK
Int J Lab Hematol
· 2026 Feb · PMID 41042192
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OBJECTIVES: Early diagnosis of suspected sepsis is crucial to improve patient survival. Cell population (CP) data, a set of leucocyte research parameters from hematology instruments, has a potential as markers for infect...OBJECTIVES: Early diagnosis of suspected sepsis is crucial to improve patient survival. Cell population (CP) data, a set of leucocyte research parameters from hematology instruments, has a potential as markers for infection. The aim of this study was to investigate the diagnostic accuracy for infection of CP variables from Sysmex XN instruments in patients with suspected sepsis in the emergency department (ED). METHODS: Adult patients with suspected sepsis in the ED were included. CP variables, C-reactive protein (CRP), and post hoc assessments of infection were recorded. Logistic regression and machine learning methods were used to develop multivariable models, which were evaluated by area under the receiver operating curve (AUC) and calibration plots. RESULTS: The development cohort and the validation cohort consisted of 600 and 656 patients, respectively. Univariate analyses revealed that complexity in monocytes (MO-X); AUC of 0.78 (0.74, 0.82), reactivity intensity of neutrophils (NEUT-RI); 0.72 (0.67, 0.76), and CRP 0.87 (0.84, 0.90) had the highest diagnostic accuracy for infection. A final multivariable model (the optimal model) using Multilayer perceptron (MLP), including MO-X, NEUT-RI, monocyte size (MO-Z), and neutrophil size (NE-FSC), had an AUC of 0.86 (0.85, 0.87) in the development cohort and 0.78 (0.74, 0.82) in the validation cohort with reasonable calibration. Including CRP in this model further improved accuracy and calibration. CONCLUSIONS: Sysmex CP variables may help diagnose infections in the ED. However, the lack of well-described calibration procedures and quality assurance for non-IVD approved CP variables is an impediment to clinical implementation.
Int J Lab Hematol
· 2026 Feb · PMID 41013982
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INTRODUCTION: Atypical lymphocytes (ALYs) are activated lymphocytes with distinct morphological characteristics, often observed in various infections, autoimmune diseases, drug reactions, and malignancies. Their appearan...INTRODUCTION: Atypical lymphocytes (ALYs) are activated lymphocytes with distinct morphological characteristics, often observed in various infections, autoimmune diseases, drug reactions, and malignancies. Their appearance may resemble leukemic or lymphoma cells, making it essential to differentiate ALYs, particularly in patients with hematological malignancies. With the advent of T-cell engagers (TCEs), a novel class of immuno-oncology drugs, this study aimed to investigate their effect on peripheral blood profiles, including ALYs. METHODS: We retrospectively analyzed complete blood count (CBC) data and peripheral blood morphology from 28 patients enrolled in clinical trials of various TCEs targeting multiple myeloma and B-cell lymphomas. The drugs studied included cevostamab, linvoseltamab, glofitamab, teclistamab, talquetamab, elranatamab, and epcoritamab. RESULTS: A transient increase in ALYs was observed in 11 of the 28 patients treated with TCEs. This was confirmed by changes in cell morphology and flow cytometric parameters obtained from the CBC analyzer. ALY elevation appeared to be influenced by drug type, administration route, and combination therapies. In addition, a sudden and transient decrease in both monocytes and lymphocytes was noted in peripheral blood following cevostamab treatment. CONCLUSION: The observed increase in ALYs likely reflects immune activation induced by TCEs. Understanding ALY dynamics during TCE treatment is crucial for clinicians and pathologists when interpreting patient test results. Furthermore, ALY testing may serve as a potential marker for predicting the effectiveness of TCE therapies.
Int J Lab Hematol
· 2026 Feb · PMID 41013981
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INTRODUCTION: Multiple myeloma (MM) is an incurable clonal B-cell malignancy characterized by the accumulation of neoplastic plasma cells in the bone marrow (BM). Many pieces of evidence indicate that hypoxia promotes MM...INTRODUCTION: Multiple myeloma (MM) is an incurable clonal B-cell malignancy characterized by the accumulation of neoplastic plasma cells in the bone marrow (BM). Many pieces of evidence indicate that hypoxia promotes MM progression, but the underlying mechanisms are not well known. METHODS: We analyzed gene expression profiles of 3 MM cell lines under hypoxia and the MMRF CoMMpass project. We validated the expression patterns of hypoxia-associated genes (HAGs) in CD138+ BM cells from MM patients at different stages. Single-cell RNA sequencing data were used to analyze the performance of HAGs in the BM microenvironment. RESULTS: We identified 17 HAGs differentially expressed in three MM cell lines under hypoxia. While in the MMRF project, we identified 92 differentially expressed HAGs in newly diagnosed MM patients. MM cell lines and the MMRF project shared 9 HAGs, including ADM, BNIP3L, EGLN1, FAM162A, HMOX1, PDK1, PLOD1, STAT5B, and TFRC. Notably, 8 of them were significantly associated with the overall survival of MM patients, and 6 were significantly associated with the MM patient survival in the first year after diagnosis. Then, hypoxia pressure scores calculated using these genes displayed significant differences between MM patients and healthy individuals. Further, we validated the expression patterns of HAGs using another cohort data and performed qRT-PCR using our own samples, and the results confirmed severe hypoxia existed in plasma cells and other cell types of the BM microenvironment of MM patients compared to healthy individuals. CONCLUSION: Taken together, our findings may contribute to the treatment and prognosis prediction of MM patients.
Int J Lab Hematol
· 2026 Feb · PMID 40999880
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INTRODUCTION: Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening thrombotic microangiopathy characterized by a severe deficiency of ADAMTS13 activity, typically defined as less than 10 IU/dL. Rapid...INTRODUCTION: Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening thrombotic microangiopathy characterized by a severe deficiency of ADAMTS13 activity, typically defined as less than 10 IU/dL. Rapid and reliable measurement of ADAMTS13 activity is crucial for both timely diagnosis and effective long-term patient monitoring. While ELISA-based methods are widely used, automated assays offer potential advantages in terms of turnaround time and standardization. This study evaluates two automated ADAMTS13 activity assays, HemosIL AcuStar ADAMTS13 Activity Assay (Werfen) and TECHNOFLUOR ADAMTS13 Activity (Technoclone), in comparison to the TECHNOZYM ADAMTS13 Activity ELISA (Technoclone). METHODS: ADAMTS13 activity was measured in 100 patient samples using three assays: TECHNOZYM ADAMTS13 Activity ELISA, HemosIL AcuStar ADAMTS13 Activity, and TECHNOFLUOR ADAMTS13 Activity. Analytical performance and method comparison were assessed. Additionally, calibration against the WHO standard was evaluated. RESULTS: Both automated assays demonstrated high precision, with lower coefficients of variation (CV) compared to the ELISA. The HemosIL assay showed CVs ranging from 4.6% to 7.1%, while the TECHNOFLUOR assay exhibited CVs between 3.0% and 3.3%. ADAMTS13 activity measurements obtained with ELISA were significantly higher than those from both automated assays, which showed no statistically significant difference between them. Both automated assays achieved a sensitivity of 100%, with one false-positive TTP classification. The HemosIL assay showed the greatest bias between WHO and manufacturer-based calibrations. CONCLUSION: The automated systems exhibit strong performance and rapid turnaround times, making them well-suited for routine ADAMTS13 determination. Standardization and calibration against international benchmarks, such as the WHO standard, is essential to minimize inter-assay variability and ensure reliable clinical interpretation.
Ebisawa K, Tanibuchi M, Fukazawa K
… +1 more, Takeuchi T
Int J Lab Hematol
· 2026 Feb · PMID 40999863
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INTRODUCTION: Infectious complications occurring in patients with neutropenia remained one of the major causes of mortality in the treatment of hematologic malignancies. Rapid and exact prediction of neutrophil recovery...INTRODUCTION: Infectious complications occurring in patients with neutropenia remained one of the major causes of mortality in the treatment of hematologic malignancies. Rapid and exact prediction of neutrophil recovery would be helpful for timely and appropriate management of these complications. OBJECTIVE: The aim of this study was to evaluate the performance of neutrophil parameters, especially NE-WX, for predicting the timing of neutrophil recovery. MATERIALS AND METHODS: We retrospectively reviewed patients who were hospitalized in our department and analyzed absolute neutrophil counts (ANC), NE-WX, and monocyte counts. RESULTS: Median NE-WX and ANC of 2428 blood tests for 154 patients was 334 (Interquartile range (IQR): 312-386) and 3.124 × 10/L (IQR: 1.165-6.136 × 10/L). When NE-WX ranged from 0 to 100 or from 101 to 200, median ANCs were 0.02 × 10/L (IQR: 0.01-0.02 × 10/L) or 0.03 × 10/L (IQR: 0.02-0.623 × 10/L), respectively. Such extreme low NE-WX levels were observed only in patients with very severe neutropenia, which was defined as ANC of less than 0.2 × 10/L. Furthermore, analyses of chronological changes of NE-WX and ANC elucidated that although the behaviors of these parameters were basically parallel, recovery of ANC from neutropenia was preceded by the recovery of NE-WX (15 vs. 18 days; p < 0.01). CONCLUSION: Our analyses revealed that low NE-WX levels were observed only in patients with very severe neutropenia, and in these cases, increases in NE-WX levels might predict the timing of neutrophil recovery.
Int J Lab Hematol
· 2026 Feb · PMID 40996237
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BACKGROUND: Erythrocyte indices are measuring tools for differentiating beta thalassemia (β-thalassemia) minor from other microcytic hypochromic anemias using routine hematological parameters. Although indices such as th...BACKGROUND: Erythrocyte indices are measuring tools for differentiating beta thalassemia (β-thalassemia) minor from other microcytic hypochromic anemias using routine hematological parameters. Although indices such as the Mentzer Index, Shine and Lal (S&L), Green and King, Ehsani, and Srivastava are widely applied, diagnostic accuracy remains limited when compared to hemoglobin electrophoresis, which serves as the gold standard. OBJECTIVE: To compare the performance of two newly developed erythrocyte formulas for identifying β-thalassemia minor in comparison with five commonly used indices. METHODS: A cross-sectional study was conducted on 54 males and 214 female subjects with microcytic hypochromic anemia. Two new formulas were developed based on Mean Corpuscular Hemoglobin Concentration (MCHC), a parameter available in simple hematologic analyzers. The first formula was derived using the binary logistic regression method (21.33 + 0.9MCH-1.3MCHC), while the second was constructed as a ratio of Mean Corpuscular Volume (MCV) and MCHC (MCV/MCHC × 100). Diagnostic performance was compared against other widely used erythrocyte indices. RESULTS: Shine and Lal Index had the highest sensitivity compared to all erythrocyte indices (98.65%). However, the newly developed formulas had the highest specificity (92.50% and 90.01%), positive predictive value (PPV) (93.48% and 91.55%), negative predictive value (NPV) (85.38% and 85.71%), accuracy (89.55% and 88.81%), Youden Index (79.66% and 77.85%), and Area Under the Curve (AUC) (0.932 and 0.934) compared to all erythrocyte indices. CONCLUSION: The two new MCHC-based formulas had the best diagnostic performance compared with other erythrocyte indices, while Shine and Lal Index had the highest sensitivity.
Rafat M, Bouraqi Y, Sisakht JM
… +3 more, Azarkeivan A, Najmabadi H, Neishabury M
Int J Lab Hematol
· 2026 Feb · PMID 40964792
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INTRODUCTION: Pyruvate kinase deficiency (PKD) is a potentially underdiagnosed cause of chronic hemolytic anemia worldwide and remains understudied in certain populations, including Iran. Here, we describe PKD diagnoses...INTRODUCTION: Pyruvate kinase deficiency (PKD) is a potentially underdiagnosed cause of chronic hemolytic anemia worldwide and remains understudied in certain populations, including Iran. Here, we describe PKD diagnoses in seven Iranian patients from four consanguineous families. Additionally, we present evidence from a population-specific database that supports the widespread prevalence of this disease in the country. MATERIALS AND METHODS: Whole exome sequencing (WES) was performed on probands presenting with hyperbilirubinemia and severe hemolytic anemia, who were referred to us by specialists after exclusion of hemoglobinopathies, autoimmune hemolytic anemia, and G6PD deficiency, with no definitive diagnosis established. Family studies were conducted using Sanger sequencing. The Iranome database was screened for pathogenic PKLR mutations. RESULTS: Three distinct PKLR variants were identified in these families: a known pathogenic variant, a novel likely pathogenic variant, and a variant of unknown significance that had previously been reported only once in the compound heterozygous state in two Iranian siblings. Also, a retrospective analysis of the Iranome database revealed that 21 individuals from various Iranian ethnic groups, out of 1200, carried one of six distinct variants classified as pathogenic or likely pathogenic based on the American College of Medical Genetics and Genomics (ACMG) guidelines. DISCUSSION AND CONCLUSION: This study provides new insights into the genetic and ethnic diversity of PKD and its prevalence in Iran. It also highlights critical risk factors for PKD in the Iranian population, including clinical and molecular diagnostic challenges, the prevalence of consanguineous marriages, and low public awareness regarding the risks of genetic disorders.
Pleyer C, Ney G, Nghiem K
… +10 more, Kalsi S, Bolan C, Calvo KR, Sampaio de Melo MK, Stewart DR, Maiarana J, Kanuri A, Tosi L, Sheppard JI, Warkentin TE
Int J Lab Hematol
· 2025 Dec · PMID 40958598
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