https://www.bloodtransfusion.it/bt/issue/feed Blood Transfusion 2026-03-02T09:43:06+00:00 Luisa Stea - Editorial Office luisa.stea@bloodtransfusion.it Open Journal Systems <p>Blood Transfusion (BT) welcomes international submissions of papers on all fields related to Transfusion Medicine, Immunohematology, Hemostasis and Thrombosis.</p> <p>BT is the official journal of two European Scientific Societies</p> <p>BT is published in English (Supplements may be published in the original language)</p> <p>Free online access</p> <p style="font-weight: 400;"><strong>Impact Factor (2024): </strong><strong>2.3</strong></p> <p style="font-weight: 400;"><em>The journal is indexed in PubMed-MEDLINE, Google Scholar, Embase and Scopus and PubMed Central.</em></p> <p style="font-weight: 400;"><strong> </strong><strong>Official journal of</strong></p> <p style="font-weight: 400;">Società Italiana di Medicina Trasfusionale e Immunoematologia) (<a href="http://simti.it/">SIMTI</a>) and Sociedad Española de Transfusión Sanguinea y Terapia Celular (<a href="http://www.sets.es/">SETS</a>).</p> https://www.bloodtransfusion.it/bt/article/view/1191 Donor health beyond donation: cardiovascular risk factors in blood donor populations. A cross-sectional study 2025-10-24T07:47:06+00:00 Ivica Marić ivica.maric@ztm.si <p><strong>Background</strong> - Blood donors are often regarded as healthier than the general population, a phenomenon described as the “healthy donor effect”. This perception arises from strict donor selection criteria and routine pre-donation screening, yet these evaluations focus largely on hemoglobin, vital signs, and a short medical history, thereby providing only a partial assessment of donor health. As cardiovascular disease (CVD) remains the leading global cause of mortality, assessing cardiovascular risk factors in blood donors provides an opportunity to evaluate whether this group is genuinely healthier or simply appears so due to selection bias.</p> <p><strong>Materials and methods</strong> - A cross-sectional study was conducted among 1,543 Slovenian blood donors. All donors completed a medical questionnaire, underwent a physical examination, and vital signs measurements. Body mass index (BMI) was calculated from self-reported weight and height. Information on diseases, medication use, smoking, and physical activity was also collected. A subgroup of 506 donors without reported illness and not taking medication was classified as “healthy”. This subgroup underwent additional laboratory investigations, including complete blood count, lipoproteins, and high-sensitivity C-reactive protein. A composite CVD risk score was developed by integrating traditional and novel risk factors.</p> <p><strong>Results</strong> - Overall, 32% of donors reported at least one chronic condition and 19% reported medication use, most frequently antihypertensive therapy. Median BMI was 26.3 kg/m², with 56% of donors overweight or obese. Nearly 40% had elevated BP, including 7% with systolic BP ≥160 mmHg. According to the CVD risk score, 49% were low risk, 29% moderate, and 25% high, with men more often at increased risk.</p> <p><strong>Discussion</strong> - Despite eligibility screening, many donors exhibited subclinical CVD risk factors. These findings confirm that transfusion services can contribute beyond donor and recipient safety, offering a valuable platform for prevention and early detection, and strengthening public health surveillance.</p> 2025-12-16T00:00:00+00:00 Copyright (c) 2025 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1095 RH gene inversion-recombination as a major mechanism of the D-- phenotype in China 2025-09-22T19:28:15+00:00 Yanling Ying yingyanling@126.com Jingjing Zhang 2280775527@qq.com Xiaozhen Hong wanwanhxz@sina.com Wenjing Yuan 605702439@qq.com Bing Zhang 1506532584@qq.com Xinyu Huang hhh330106@163.com Xianguo Xu yjs001@163.com Faming Zhu Zfm00@hotmail.com <p><strong>Background</strong> - The D-- phenotype is an extremely rare RhCE variant characterized by the complete absence of RhCE antigens in the Rh blood group system and is associated with a highly complex molecular mechanism. In this study, several D-- individuals with discrepancies between phenotypic and genotypic results were analyzed, and a complex <em>RH</em> gene inversion-recombination variant with a novel breakpoint was identified via multi-platform analyses.</p> <p><strong>Materials and methods</strong> - Six D-- individuals from the Chinese population were collected. The full-length sequences of the <em>RHD</em>, <em>RHCE</em>, and <em>RHAG</em> genes were amplified, and long-read haplotype sequencing was performed using PacBio technology. Complex structural variations in the <em>RH</em> gene were detected through Bionano Optical Genome Mapping (OGM). Lastly, fusion regions in the RHCE haplotype were amplified and sequenced using PacBio technology and PCR-SBT.</p> <p><strong>Results</strong> - PacBio third-generation haplotype sequencing (TGS) suggested the presence of potential structural variants. Subsequently, Bionano optical genome mapping (OGM) identified a complex gene inversion and recombination structural variant, designated <em>RHCE*Ce(1-2)-D(3-10)-TMEM50A-Ce(10-8)-Ce(3-10)</em>. Moreover, a novel fusion breakpoint was validated by PacBio haplotype sequencing and PCR sequencing-based typing (PCR-SBT). The structural inversion, which originated within intron 7 of the <em>RHCE</em> gene at chr1: 25377650, was rejoined to intron 2 at chr1: 25404500, forming a novel breakpoint. Finally, all D-- individuals in this study harbored this complex structural variation with an identical breakpoint position.</p> <p><strong>Conclusion</strong> - The <em>RH</em> gene inversion and recombination may represent a prevalent molecular basis for the D-- phenotype in the Chinese population. These findings expand our understanding of the molecular mechanisms underlying the Rh blood group system and hold significant implications for transfusion safety in individuals with this rare D-- phenotype.</p> 2025-12-11T00:00:00+00:00 Copyright (c) 2025 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1094 Optimal model for predicting intraoperative blood transfusion in elective surgery patients: a comparative study of eight machine learning methods 2025-09-02T10:10:58+00:00 Min Li 478833808@qq.com Jialing Lin 840519868@qq.com Hui Du 359396795@qq.com Wei Jiang 36407930@qq.com <p><strong>Background</strong> - To identify the optimal machine learning model for predicting intraoperative blood transfusion requirements in elective surgery patients by systematically evaluating eight algorithms.</p> <p><strong>Materials and methods</strong> - A retrospective cohort of 1,500 elective surgery patients was screened, with 1,017 meeting inclusion criteria. Demographic (gender, age, height, weight), preoperative (liver, cardiac, pulmonary, coagulation functions), and intraoperative indicators (surgery grade, anesthesia score, estimated blood loss, vital signs) were collected. After univariate analysis, 20 significant variables were selected for modeling. The dataset was split 7:3 into training and testing sets. Eight models −Random Forest (RF), Generalized Linear Model (GLM), Support Vector Machine (SVM), Gradient Boosting Machine (GBM), k-Nearest Neighbors (KNN), Neural Network (NNet), λ determined by cross-validation (LASSO), and Decision Tree (DT)− were trained using five-fold cross-validation. Performance was evaluated based on the area under the receiver operating characteristic curve <br />(ROC-AUC), precision-recall curves (PR-AUC), residuals, and variable importance.</p> <p><strong>Results</strong> - In the training set, RF achieved the highest AUC (1.000), followed by GBM (0.992) and SVM (0.987). In the testing set, RF maintained superior performance (AUC=0.992), with high precision-recall (AUC-PR=0.988) and minimal residuals. Key predictors included preoperative hemoglobin (preHGB), EBL, and coagulation markers (preAPTT, preDD).</p> <p><strong>Discussion</strong> - RF is the most reliable model for intraoperative transfusion prediction, offering high accuracy and clinical interpretability. This study provides a data-driven tool to optimize transfusion strategies and reduce adverse outcomes.</p> 2025-10-30T00:00:00+00:00 Copyright (c) 2025 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1079 Seroprevalence study of West Nile virus and Usutu virus in blood, organs, cells and tissue donors in Italy, 2021-2022 2025-04-30T09:26:16+00:00 Antonello Amendola antonello.amendola@iss.it Stefano Boros stefano.boros@iss.it Ilaria Pati ilaria.pati@iss.it Letizia Lombardini letizia.lombardini@iss.it Cristiano Fiorentini cristiano.fiorentini@iss.it Claudia Fortuna claudia.fortuna@iss.it Antonino Bella antonio.bella@iss.it Raffaele Donadio raffaele.donadio@iss.it Giulia Marsili giulia.marsili@iss.it Claudio Argentini claudio.argentini@iss.it Vanessa Piccinini vanessa.piccinini@iss.it Francesca Masiello francesca.masiello@iss.it Giuseppe Feltrin giuseppe.feltrin@iss.it Simonetta Pupella simonetta.pupella@iss.it Vincenzo De Angelis vincenzo.deangelis@iss.it Flavia Riccardo flavia.riccardo@iss.it Patrizio Pezzotti patrizio.pezzotti@iss.it Giulietta Venturi giulietta.venturi@iss.it <p><strong>Background</strong> - West Nile virus (WNV) and Usutu virus (USUV) are endemic in Italy. Some regions experience high annual circulation, while others report only sporadic or low-level activity.</p> <p><strong>Materials and methods </strong>- A national survey was conducted to assess WNV and USUV seroprevalence among blood and organ donors. Between February 2021 and February 2022, serum samples were collected from 9,073 donors (8,829 blood donors and 244 organ donors) across almost all Italian regions. Samples were screened using a WNV ELISA IgG test, with positive results confirmed via plaque reduction neutralization test (PRNT) for WNV and USUV.</p> <p><strong>Results</strong> - Of the total samples, 195 (190 blood donors and 5 organ donors) tested positive by ELISA. Among these, 23 samples (20 blood donors and 3 organ donors) were confirmed WNV-positive, and 42 (41 blood donors and 1 organ donor) were USUV-positive by PRNT. Additionally, 39 donors had antibodies to both viruses.</p> <p>Unadjusted national seroprevalence among blood donors was 0.66% (95% CI: 0.50-0.85%) for WNV and 0.90% (95% CI: 0.71-1.11%) for USUV. Among organ donors, WNV seroprevalence was 1.64% (95% CI: 0.45-4.14%) and 0.82% (95% CI: 0.10-2.93%) for USUV. After adjustment by general population weights, national seroprevalence in blood donors was 0.90% for WNV and 1.16% for USUV.</p> <p><strong>Discussion</strong> - Seroprevalence was higher in historically endemic northern regions, aligning with known circulation patterns. Blood and organ donors showed similar exposure levels. These findings confirm sustained WNV and USUV presence in Italy and support the continued need for preventive safety measures in the management of Substances of Human Origin (SoHO).</p> 2025-09-05T00:00:00+00:00 Copyright (c) 2025 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1073 Optimal 6-hour window for salvaged mediastinal blood retransfusion after cardiovascular surgery: an in vitro quality and safety analysis 2025-06-03T09:18:04+00:00 Hongwen Ji 13701229553@163.com Jiachen Shan shanjc95@163.com Jie Gao gaoojiee@126.com Yuye Chen chenyuye@fuwai.com <p><strong>Background</strong> - Postoperative hemorrhage is a significant complication of cardiovascular surgery. Although autologous cell salvage is safe and effective for preserving patients' blood, its use in the postoperative context remains underexplored. We, therefore, evaluated the quality and safety of mediastinal blood collected for different periods at room temperature after cardiac surgery.</p> <p><strong>Materials and methods</strong> - In this preclinical, in vitro investigation, 60 patients who lost ≥500 mL mediastinal blood within 6 hours after cardiovascular surgery were randomized into three groups (6H, 8H, 12H) according to the time the shed mediastinal blood was processed. The quality of the salvaged blood was evaluated through measurements of hematocrit, pH, electrolyte and lactate levels, 2,3-diphosphoglycerate (2,3-DPG) and adenosine triphosphate (ATP) content, and red blood cell (RBC) deformability and morphology. The safety evaluations included hemolysis, contamination, and levels of inflammatory cytokines.</p> <p><strong>Results</strong> - With regard to quality, the median [IQR] values for the 6H group were hematocrit 56.3 [46.5-59.0] %, pH 7.34 [7.31-7.40]), potassium 1.10 [0.91-1.25] mmol/L, lactate 0.45 [0.20-0.90] mmol/L, 2,3-DPG 12.00 [9.24-13.32] μmol/gHb), ATP 5.59 [5.27-5.93] μmol/gHb and deformability 0.88 [0.77-0.93]. The values were similar across the three groups, except for pH, which decreased over collection period. RBC morphology transitioned from biconcave in the 6H and 8H groups to spiny forms in the 12H group. Hemolysis and inflammatory cytokine levels were low in all groups. Only the 6H group achieved total microbial sterility, with 0% bacterial contamination, compared to 10% (No.=2) in the 8H group and 5% (No.=1) in the 12H group.</p> <p><strong>Discussion</strong> - Our study establishes a 6-hour window as the optimal period for ensuring microbial sterility and preserving the quality and safety of salvaged mediastinal blood postoperatively. Although blood quality remained stable for up to 12 hours, the heightened risk of contamination beyond 6 hours necessitates rigorous microbiological monitoring.</p> 2025-07-08T00:00:00+00:00 Copyright (c) 2025 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1037 Turoctocog alfa pegol versus recombinant factor VIII-Fc fusion protein: a head-to-head pharmacokinetics comparison 2025-08-29T10:34:28+00:00 Alessandra Poz pozalessandra@gmail.com Laura Contino lcontino@ospedale.al.it Giovanni Barillari barillarigiovanni@yahoo.it <p>Our series of five cases enabled a direct comparison of the pharmacokinetic (PK) profiles of turoctocog alfa pegol <em>versus</em> efmoroctocog alfa, a recombinant a factor VIII‐Fc fusion protein, performed in the same subjects with severe hemophilia A within a short time-frame. Half-life values were significantly longer, by about 1 hour, with turoctocog alfa pegol than with efmoroctocog alfa. The estimated time spent with FVIII levels above 5% when infusing every 4 days was significantly longer with turoctocog alfa pegol. When feasible, the possibility of executing a PK curve should be considered, in order to use the parameters obtained as the main indicators and predictors of coagulation support.</p> 2025-08-29T00:00:00+00:00 Copyright (c) 2025 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1203 Molecularly confirmed para-Bombay (Ah) secretor phenotype with FUT1 c.328G>A and FUT2 c.357C>T mutations: first case report from India 2025-09-24T21:17:42+00:00 Thamizhsurabi Arivazhagan thamizhsurabi1104@gmail.com Tejaswi Chada tejaswichada94@gmail.com Srinivasa Rao Chunchu srinivasarao.ch@esic.nic.in Monali Lokhande monali.contact@gmail.com Rati Devendra ratichalvam@gmail.com <p>A 35-year-old woman presented with symptoms of anemia and hemoglobin of 5.5 g/dL. The patient's blood sample was subjected to standard serological blood grouping, using both tube and column agglutination techniques. Group I discrepancy was found between cell grouping (O Rh D positive) and serum grouping (A group). Serological tests revealed no detectable H antigen on red cells despite presence of normal ABO antigens in the secretions, indicating a para-Bombay Ah secretor phenotype. Blood group genotyping revealed homozygosity for both the <em>FUT1 </em>c.328G&gt;A mutation and the <em>FUT2</em> c.357C&gt;T mutation, leading to diminished H antigen expression in RBC and intact secretor function, respectively. This rare case of para-Bombay (Ah) secretor phenotype expands the spectrum of H-deficient phenotype reported from India and highlights complexity of blood group typing and importance of molecular diagnostics in rare phenotypes.</p> 2025-11-20T00:00:00+00:00 Copyright (c) 2025 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1197 No bleeding during a dialysis catheter insertion in a patient with INR 3.2 due to acute liver dysfunction 2025-09-13T07:18:46+00:00 Piotr Czempik pczempik@sum.edu.pl Tomasz Jaworski tjaworski@sum.edu.pl <p>We report a case of a 61-year-old female admitted to the intensive care unit (ICU) with circulatory failure, acute liver dysfunction and stage 3 acute kidney injury (AKI) secondary to severe acute pancreatitis (SAP). Despite a markedly elevated international normalized ratio (INR &gt;3) and uremia (urea &gt;100 mg dL<sup>-1</sup>), a dialysis catheter was inserted without any bleeding. Viscoelastic hemostatic assay (VHA) demonstrated preserved clot propagation and firmness and impaired clot initiation. Based on ROTEM results and absence of signs of clinical bleeding, we opted against prophylactic transfusion of fresh frozen plasma (FFP) and proceeded with catheter placement. No bleeding was observed during or after the procedure. This case supports growing evidence that conventional coagulation tests (CCTs) like INR are unreliable predictors of bleeding in acute liver failure. VHAs offer a global and functional assessment of hemostasis, revealing rebalanced or hypercoagulable profiles otherwise masked by CCTs. Current guidelines increasingly discourage routine FFP transfusion prior to invasive procedures, advocating individualized risk assessment. Our report contributes to ongoing discussion about optimizing transfusion practices and procedural safety in critically ill patients with elevated INR and supports the broader integration of VHAs into ICU decision-making.</p> 2025-11-27T00:00:00+00:00 Copyright (c) 2025 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1170 Irregular antibodies in pregnancy during the universal anti-RHD prophylaxis era: a survey of Spanish Hospitals 2025-10-03T06:56:48+00:00 Marta Rodríguez-Aliberas marrodriguez@bst.cat Iñigo Romón joseinigo.romon@scsalud.es Enric García-Rey egarcia@bst.cat Aurora Viejo Aviejo.hulp@salud.madrid.org Consuelo Funes Vera Mfv60y@gmail.com María-Eva Mingot-Castellano mariae.mingot.sspa@juntadeandalucia.es Pilar Solves Alcaina solves_pil@gva.es José María García Gala jgarciaga@gmail.com Ana Polo Escriche abpolo@riojasalud.es José Luís Bueno Cabrera joseluis.bueno@salud.madrid.org Veronica Pons Escoll vpons@bst.cat Roberto Céspedes López rcespedes@bst.cat Maria Falcón Rodríguez mariad.falcon@gmail.com Montse Gómez Calafat gomez_moncal@gva.es Pablo Rodríguez Whilhemi pablo.rodriguez.wilhelmi@navarra.es Christian Palafox Camps cpalafox@bst.cat Lourdes Domínguez Acosta lourdes.dominguez.acosta.sspa@juntadeandalucia.es Miguel Angel Álvarez mangel.alvarez.sspa@juntadeandalucia.es Jordi Fornells Albanell jordifornells3@gmail.com María Belén Moreno Risco belen.morenor@salud-juntaex.es Gemma Moreno Jiménez gmj@richmond.es Josefina Galende del Canto jgalende@saludcastillayleon.es Laia Ramiro Infante lramiro@bst.cat María del Carmen Hernández García maria.hernandezg@salud-juntaex.es Asunción Pinacho Oyarzabal apinacho@bst.cat María-Ángeles Fernández Galán mariaa.fernandez@salud-juntaex.es Elena Delgado Casado Elena.delgadoc@salud-juntaex.es Virginia Callao Molina virginia.callao@gmail.com Eduardo Muñiz-Diaz eduardomunizdiaz@gmail.com <p><strong>Background</strong> - Although great advances have been made in the prevention of hemolytic disease of the fetus and newborn, especially for anti-D, irregular antibodies still appear. In order to ascertain the situation in Spain, we conducted a survey among hospitals treating pregnant women.</p> <p><strong>Materials and methods</strong> - We sent a survey to Spanish public hospitals comprising demographical data (ethnicity, number of pregnancies, type of fertilization), characteristics of antibodies (specificity, number, antigenic compatibility), cause of alloimmunization and the clinical consequences (fetal death, icterus, anemia) between 2016 and 2021. We characterized the risk posed by antibodies and their clinical impact according to previously described criteria.</p> <p><strong>Results</strong> - During the study period, 574,140 children were born in the responding hospitals. Antibodies were detected in 1,055 women with 1,112 pregnancies, resulting in a 0.19% alloimmunization prevalence. The most common antibodies were anti-D (No.=393, 28.7%), anti-c (No.=204, 14.9%), anti-E (No.=199, 14.6%), anti-M (No.=129, 9.4%), and anti-Kell (No.=114, 8.3%). Incorrect prophylaxis administration in the current or past pregnancy accounted for 88.6% of anti-D, and 12 (6.5%) arose from an RhD-positive transfusion. When analyzing incompatible pregnancies (No.=424; 38%), 103 (24.3%) presented severe or very severe hemolytic disease, most of which (No.=92, 89%) were produced by high-risk antibodies, while only 11 cases were caused by medium-risk antibodies.</p> <p><strong>Discussion</strong> - The prevalence of irregular antibodies during pregnancy in Spain is lower than previously described for other Western countries. The most important antibodies are anti-D, anti-c and anti-K. More efforts to characterize antibodies should be made in order to reduce their prevalence and clinical impact.</p> 2026-01-19T00:00:00+00:00 Copyright (c) 2026 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1282 Precision Medicine and Patient Blood Management - A Good Pairing 2025-12-29T11:40:33+00:00 Richard R. Gammon mdrrg111@gmail.com <p>n/a</p> 2026-03-02T00:00:00+00:00 Copyright (c) 2026 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1198 Severe hemophilia A with inhibitors and pancreatic cancer – when emicizumab is not enough 2025-10-20T14:44:44+00:00 Mario Biglietto mario.biglietto@uniroma1.it Silvia Linari linaris@aou-careggi.toscana.it Anna Laura Faccini annalaura.faccini@uniroma1.it Silvia Sorella sorella@bce.uniroma1.it Erica Crisanti erica.crisanti@uniroma1.it Marco Antonacci marco.antonacci@uniroma1.it Silvio Ligia silvioligia7@gmail.com Rosaria Mormile mmormile@bce.uniroma1.it Roberta Ciciani r.ciciani@bce.uniroma1.it Erminia Baldacci baldacci@bce.uniroma1.it Cristina Santoro santoro@bce.uniroma1.it <p><strong>Short description</strong></p> <p>Since the early 2000s, FVIII prophylaxis has been the standard for severe hemophilia A, but patients with inhibitors who failed immune tolerance induction (ITI) had no effective prophylaxis until emicizumab, which significantly reduced bleeding rates and improved quality of life. A 67-year-old man with severe hemophilia A and high-titer inhibitors, managed previously with bypassing agents, began emicizumab prophylaxis in 2021 and experienced over three years without bleeding, including safe dental procedures. In 2024, he was diagnosed with stage III pancreatic cancer, and despite emicizumab, he had multiple severe bleeding episodes during diagnostic and therapeutic procedures, requiring large doses of rFVIIa; bleeding ceased after stereotactic radiotherapy. This case highlights emicizumab’s transformative impact but also its limitations during major medical interventions, emphasizing the continued need for on-demand treatment and consideration of ITI even in the era of non-factor therapies.</p> 2026-01-14T00:00:00+00:00 Copyright (c) 2026 SIMTIPRO Srl https://www.bloodtransfusion.it/bt/article/view/1025 Sphenoidal sinus extramedullary hematopoiesis in a child with sickle cell disease. A case report 2025-03-19T08:16:08+00:00 Sara Pestarino sarapestarino@gaslini.org Daniela Guardo danielaguardo@gaslini.org Frank Rikki Mauriz Canevari canevari@edu.unige.it Luca Guastini luca@guastini.unige.it Gianluca Piatelli gianlucapiattelli@gaslini.org Domenico Tortora domenicotortora@gaslini.org Mariasavina Severino mariasavinaseverino@gaslini.org Diego Criminelli Rossi diego.criminellirossi@hsanmartino.it Maurizio Miano mauriziomiano@gaslini.org Carlo Dufour carlodufour@gaslini.org <p>Extramedullary hematopoiesis (EMH) is a phenomenon that occurs in hematologic diseases characterized by insufficient/ineffective hematopoiesis. Here we report the management of a left sphenoidal sinus EMH lesion of a 13-year-old boy affected by sickle cells disease (SCD), that was accidentally found during a routine encephalic MRI as a slow-growing space-occupying lesion in the sinus. An excisional biopsy was performed through a left transpterygoid approach and histological examination confirmed the presence of EMH. No procedural complications occurred. This approach allowed to maximize treatment by adding hydroxyurea to transfusional regimen and stabilize the lesion size. NGS for congenital anemias showed that the patient was also heterozygous for the pathogenic variant c.1456C&gt;T p.(Arg486Trp) on the gene PKLR, which is known to cause pyruvate kinase (PK) deficiency.</p> 2025-09-30T00:00:00+00:00 Copyright (c) 2025 SIMTIPRO Srl