Journal of Blood Medicine最新文献

{"title":"The Value of Using Bedside Point of Care Testing for International Normalized Ratio in Patients on Warfarin Undergoing Dental Procedures and Bleeding Assessment; A Single Center Prospective Study.","authors":"Abdullah Albarkheel, Hawazen Alshareef, Amal Albar, Sohayla Youssef Altbaili, Mohammed Ali Alminaqash, Amjad Alotibie, Aamir Sheikh, Abdullah Alahmadi, Badar Alaifan, Hani Tamim, Tarek Owaidah","doi":"10.2147/JBM.S514109","DOIUrl":"10.2147/JBM.S514109","url":null,"abstract":"<p><strong>Introduction: </strong>Postoperative bleeding is a significant complication in dental surgeries, especially for patients on anticoagulants. Risk stratification based on patient factors can help reduce these complications, but current tools lack accurate risk prediction.</p><p><strong>Aim: </strong>To examine point-of-care device accuracy for measuring International Normalized Ratio (INR) compared to laboratory INR and evaluate risk factors for post-dental surgical bleeding in warfarin patients.</p><p><strong>Methods: </strong>The primary outcome was post-operative bleeding following invasive dental procedures. INR measurements were performed using both point-of-care devices and laboratory methods. One-way ANOVA compared INR values across bleeding severity groups and procedure types. Independent samples <i>t</i>-test compared INR values between low (<5 mg) versus high (≥5 mg) warfarin doses. Levene's test assessed variance equality.</p><p><strong>Results: </strong>The study included 88 patients (61.4% female, mean age 49.7 ± 14.1 years). Bleeding outcomes were: no bleeding (33.0%, n = 29), minimal bleeding (34.1%, n = 30), moderate bleeding (20.5%, n = 18), and severe bleeding (11.4%, n = 10). No significant differences existed between <5 mg versus ≥5 mg warfarin groups in point-of-care INR (2.51 vs 2.70, p = 0.235) or laboratory INR (2.54 vs 2.63, p = 0.572). Significant associations were found between physician and procedure type (p < 0.001) and between point-of-care and laboratory INR measurements (r = 0.717, p < 0.001). No correlation existed between INR level and bleeding.</p><p><strong>Conclusion: </strong>Bleeding risk in warfarin patients undergoing dental procedures depends on procedure complexity and duration rather than INR level alone. Point-of-care INR devices demonstrated accuracy comparable to laboratory measurements, offering valuable risk assessment that may help predict bleeding risk and provide reassurance for low-risk cases.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"337-348"},"PeriodicalIF":2.7,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12301139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Respiratory Syncytial Virus Vaccine Induced Thrombotic Microangiopathy.","authors":"Robert Seby, Benjamin J McCormick, Emily Wolf, Justin Kuhlman, Nikita Jhawar, Sven Peter Oman, Adam M Kase, Chancey Christenson, Marwan Shaikh","doi":"10.2147/JBM.S478230","DOIUrl":"10.2147/JBM.S478230","url":null,"abstract":"<p><p>Microangiopathic hemolytic anemia with associated multiorgan failure is a medical emergency. The differential diagnosis for microangiopathic hemolytic anemia is broad and requires a systematic, focused approach at ruling out serious causes. However, with the rise of new vaccines and sporadic reports of vaccine-induced microangiopathic hemolytic anemia, it is essential for providers to include vaccines as a potential cause on their differential diagnosis. Here, we report the first case of respiratory syncytial virus vaccine-induced microangiopathic hemolytic anemia, anuric renal failure, and metabolic encephalopathy in the world.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"331-335"},"PeriodicalIF":2.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12301135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utilization of Fetal Hemoglobin Parameters in Predicting Clinical Severity of Sickle Cell Disease: Retrospective Study From a Tanzanian Cohort.","authors":"Hadiya M Haji, Florence Urio, Siana Nkya, Clara Chamba, Ahlam Nasser, Magdalena Lyimo, Mwashungi Ally, William Mawalla, Agnes Jonathan, Benson Kidenya, Ritah Mutagonda, Lulu Chirande, Paschal Ruggajo, Emmanuela Ambrose, Emmy Metta, Emmanuel Balandya, Julie Makani","doi":"10.2147/JBM.S493425","DOIUrl":"10.2147/JBM.S493425","url":null,"abstract":"<p><strong>Background: </strong>Fetal hemoglobin (HbF) is found at a measurable amount in red blood cells (RBCs) called F cells. High fetal hemoglobin (HbF) levels are linked with milder forms of sickle cell disease (SCD). However, some patients with high HbF levels still have severe symptoms. This variability has been associated with HbF per F cell (HbF/F cell) concentration; thus, it is hypothesized that high HbF/F cell (≥10 pg) is crucial in determining SCD disease severity rather than the overall HbF and F cell levels. This study assessed the utility of these three HbF parameters as predictors of SCD clinical events in Tanzania.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted at Muhimbili University of Health and Allied Sciences, involving 92 SCD individuals aged ≥6 years, not on hydroxyurea, between September 2022 and February 2023. Data was collected from the Sickle Pan-African Research Consortium (SPARCO)-Tanzania registry. HbF/F cell was calculated as: HbF/F cell = (HbF% × MCH pg)/F cell%. STATA version 15 was used to analyze the association between HbF parameters and clinical events measured by ordinal logistic regression. A p-value <0.05 was considered statistically significant.</p><p><strong>Results: </strong>Of the 92 SCD participants, the median age was 16 (IQR: 10-21) years, 53 (57.6%) were below 18 years, and males were 48 (52.2%). Eighty-two patients (89.1%) had HbF/F cells below 10pg. Males had significantly higher HbF/F cell levels with a median of 6.4 (IQR: 4.3-9.5) pg compared to females 5.3 (IQR: 3.5-6.5) pg (p-value = 0.004). Although, we did not observe a statistically significant association between HbF/F cell with clinical parameters, increased HbF and F cell percentages correlated with reduced odds of multiple blood transfusions by 11% (p-value = 0.016) and 3% (p-value = 0.020), respectively.</p><p><strong>Conclusion: </strong>In this cohort, HbF and F cell levels remain important predictors of disease severity, as higher levels predicted reduced requirement for multiple blood transfusions in SCD patients, while HbF/F cells did not correlate with SCD clinical events.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"321-330"},"PeriodicalIF":2.1,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12285873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-World Treatment Patterns, Clinical Outcomes, and Costs in Patients with Higher-Risk Myelodysplastic Syndromes Across France, Germany, and the United Kingdom.","authors":"Mark Drummond, Carlo Finelli, Fjoralba Kristo, Sneha S Kelkar, Shelby Corman, Rutika Raina, Ajibade Ashaye, Mehul Dalal, Detlef Haase","doi":"10.2147/JBM.S516558","DOIUrl":"10.2147/JBM.S516558","url":null,"abstract":"<p><strong>Background: </strong>Higher-risk myelodysplastic syndromes (HR-MDS) are associated with increased progression to acute myeloid leukemia (AML) and poor prognosis.</p><p><strong>Patients and methods: </strong>This chart review characterizes real-world treatment patterns, outcomes, and costs of HR-MDS in France, Germany, and the United Kingdom (UK). Treating oncologists collected data (01 January 2014-31 December 2016) for adult patients with HR-MDS (revised International Prognostic Scoring System [IPSS-R] score >3), who received first-line treatment (1LOT) and had ≥1 year follow-up post diagnosis or until death. Demographics, clinical characteristics, treatment patterns, outcomes, and healthcare resource use were collected during 1LOT. Kaplan-Meier methods were used for time-to-event outcomes. Costs, applied to resource use, were calculated through 1LOT.</p><p><strong>Results: </strong>Forty-one physicians provided data for 95 patients (France, n=31; Germany, n=29; UK, n=35). At HR-MDS diagnosis, median patient age was 75 years, 62.1% were men, and 60.0% had very high-risk disease per the IPSS-R. Median follow-up was 34.5 months. In 1LOT, 89.5% of patients received azacitidine (median, 12.0 cycles). At the end of 1LOT, 24.2% of patients had a complete and 30.5% a partial remission. From start of 1LOT, median progression-free survival was 24.3 months. Overall survival (unadjusted) was 32.9 months in all patients and shorter in the 33.7% of patients with versus without AML transformation (17.0 vs 52.9 months). Costs for 1LOT were driven by adjunctive therapy and were higher for patients who were transfusion-dependent versus -independent at the start of therapy and who did versus did not have transformation to AML.</p><p><strong>Conclusion: </strong>These results provide real-world data from France, Germany, and the UK on HR-MDS treatment patterns, clinical outcomes, and costs.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"307-319"},"PeriodicalIF":2.1,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12206415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144528129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of Haplo-Allogeneic Hematopoietic Stem Cell Transplantation Timing on Patients with Severe Aplastic Anemia Without Histocompatible Matched Sibling Donor.","authors":"Dan Fan, Fang Xiao, Jiayi Zhao, Xue Qian Yan, Qiang Liu, Li Liu, Wen Qing Wang, Wei Wei Qin","doi":"10.2147/JBM.S520719","DOIUrl":"10.2147/JBM.S520719","url":null,"abstract":"<p><strong>Background: </strong>Comparative studies on frontline haploidentical HSCT (haplo-HSCT) versus salvage haplo-HSCT after immunosuppressive therapy (IST) failure in severe aplastic anemia (SAA) are limited. To evaluate the effects of different transplantation timing on patient survival, the incidence of graft-versus-host disease (GVHD), and the risk of infection on the outcomes of patients with SAA.</p><p><strong>Methods: </strong>This retrospective study included 82 SAA patients who underwent haplo-HSCT using the \"Beijing protocol\". Patients who underwent allogeneic HSCT within 3 months after diagnosis were in the first-line HSCT group, and patients who were treated with initial IST and followed with allogeneic HSCT after treatment failure or relapse were in the salvage HSCT group. Patients were categorized into the frontline HSCT group (n=40, 48.8%) and the salvage HSCT group (n=42, 51.2%) based on transplantation timing. All 82 patients received grafts from related haploidentical donors. Follow-up was until January 1, 2024, and all patients were followed for more than 12 months with a median follow-up of 49 (12-126) months, except for dead cases.</p><p><strong>Results: </strong>Multivariate analysis identified salvage HSCT (HR: 5.344, 95% CI: 1.904-14.995), ferritin levels >1000 (HR: 5.588, 95% CI: 1.696-18.414), and CMV infection (HR: 11.909, 95% CI: 2.335-60.725) as independent risk factors for graft failure. The overall survival rate was significantly higher in the front HSCT group (90%, 36/40) compared to the salvage HSCT group (71.4%, 30/42) with mortality rates of 10.0% (4/40) and 28.6% (12/42), respectively (p=0.029). The expected 5-year OS was significantly higher in the frontline HSCT group compared to the salvage group. Salvage HSCT, ECOG score ≥1, and ferritin levels >1000 were identified as independent risk factors for prognosis.</p><p><strong>Conclusion: </strong>Frontline haplo-HSCT demonstrates superior survival and safety compared to salvage haplo-HSCT in young SAA patients without a matched sibling donor, warranting further clinical adoption.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"293-306"},"PeriodicalIF":2.1,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12182089/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144368875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thrombotic Thrombocytopenic Purpura and Evans Syndrome: Validating and Exploring 20 Years of Routine Hospital Care.","authors":"Dana Audrey Lawrie, Dennis Lund Hansen, Thomas Leineweber Kristensen, Sarah Birgitte Ingemod Sand Carlsen, Louise Hur Hannig, Per Trøllund Pedersen, Helene Bjørg Kristensen, Mads Okkels Birk Lorenzen, Jesper Stentoft, Peter Buur Van Kooten Niekerk, Maren Poulsgaard Jørgensen, Marianne Tang Severinsen, Mikkel Helleberg Dorff, Robert Schou Pedersen, Andreas Glenthøj, Henrik Frederiksen","doi":"10.2147/JBM.S513578","DOIUrl":"10.2147/JBM.S513578","url":null,"abstract":"<p><strong>Purpose: </strong>Few patients scattered among centers complicate investigation of thrombotic thrombocytopenic purpura (TTP) and Evans syndrome (ES). Routinely collected Danish register data captures the total population and includes lifelong follow-up. We aimed to validate registered TTP and ES diagnoses and to explore clinical characteristics.</p><p><strong>Patients and methods: </strong>We identified all patients in Denmark with diagnosis registrations indicative of TTP or ES in the Danish National Patient Registry 2000-2019, validated diagnoses through medical record review, and extracted and presented data on initial treatment and complications.</p><p><strong>Results: </strong>Diagnoses for patients registered with TTP and ES were confirmed for 46% and 59%, respectively. Among validated TTP patients the most widespread complications at time of diagnosis were neurological symptoms or deficits, observed in 81% of cases. Other frequent types of complications in TTP patients were any organ failure (32%) and infection (25%). Initial management and complications did not change for patients diagnosed between 2000 and 2009 and 2010 and 2019, and survival remained constant (overall mortality 26%, median follow up of 8.4 years). Treatments and complications also remained unchanged for ES patients.</p><p><strong>Conclusion: </strong>Overall, diagnostic accuracy, complications and prognosis have remained relatively constant for patients over the study period. These now validated cohorts of Danish TTP and ES patients will be utilized in future studies to examine long-term health outcomes.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"279-292"},"PeriodicalIF":2.1,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12153936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transplantation of Human Peripheral Stem and Progenitor Cells to Humanized Mouse Model for Systemic Lupus Erythematosus.","authors":"Syahrul Chilmi, Dina Fauziah, Matthew Brian Khrisna, Ifa Fauziah, Friska Supriyanto, Kusworini Handono, Kevin Reinaldo Sunjaya, Wimardy Leonard Wijaya, Mustofa Aidid, Hani Susianti","doi":"10.2147/JBM.S499999","DOIUrl":"10.2147/JBM.S499999","url":null,"abstract":"<p><strong>Introduction: </strong>Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterized by damaged and dysregulated immune system due to breakdown in the selection process during clonal growth of immune cells. Studies have shown that patients with systemic lupus erythematosus (SLE) display altered gene expression patterns and increased double-stranded DNA breaks within their hematopoietic stem and progenitor cells (HSPC). However, the current animal models for SLE found in the existing literature predominantly emphasize the use of peripheral blood mononuclear cells (PBMC) over HSPC for the creation of humanized mouse models. Nevertheless, these prior models were constrained by the limited efficiency of human cell engraftment and limited PBMC ability to replicate the capacity of HSPC to generate human SLE cells that can engraft host mice, thus making the transplant protocol inadequate.</p><p><strong>Patients and methods: </strong>Transplantation was initiated by extracting HSPC from stable SLE patients by leukapheresis. The collected cells were assessed for purity before storage at -80 °C. Humanized mice were conditioned with cyclophosphamide and total-body irradiation before receiving the HSPC transplant. After transplantation, the mice were administered human granulocyte-colony stimulating factor and sacrificed to evaluate autoantibodies and HSPC in their bone marrow and blood samples. Statistical analysis was performed using Student's <i>t</i>-test and one-way ANOVA.</p><p><strong>Results: </strong>Upon human stem cells engravement into mice, we found a noteworthy presence of HSPC, as evidenced by the positive expression of hCD45, hCD34, and/or hCD44, and the production of human antinuclear antibodies. The results indicated that the transplanted mice generated reactive autoantibodies against human cells, similar to that observed in the human donor patient. These findings shed light on the survival and behavior of transplanted human stem cells in a mouse model.</p><p><strong>Conclusion: </strong>In this study, we successfully induced immunodeficiency in mice for xenotransplantation with human peripheral stem cells.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"269-277"},"PeriodicalIF":2.1,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145791/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aplastic Anaemia Disease Burden From the Patient Perspective and Quality of Life in Zimbabwe by A. <i>Maramba and J. Mupini</i>.","authors":"Aaron Maramba, Joice Mupini, Shungu Munyati, Tendai Chris Maboreke, Justen Manasa, Lovemore Gwanzura","doi":"10.2147/JBM.S457128","DOIUrl":"10.2147/JBM.S457128","url":null,"abstract":"<p><strong>Purpose: </strong>Aplastic Anaemia (AA) is a critical haematological disorder characterized by pancytopenia and marrow hypoplasia. It is generally regarded as a rare disease albeit with multiple symptoms. The aim of the study was to get the patients' perspective to evaluate the disease burden and their knowledge, attitude, practices, and adherence to treatment.</p><p><strong>Patients and methods: </strong>This qualitative cross-sectional study was conducted at the Parirenyatwa Group of Hospitals in Harare, Zimbabwe, to investigate patients' perspectives on their knowledge, attitudes, practices and disease burden regarding AA.</p><p><strong>Results: </strong>Eleven participants diagnosed with AA via bone marrow biopsy were recruited between November 2022 and May 2023. A structured, ethically approved questionnaire was used to gather data on demographics, clinical status, treatment experiences, and overall disease knowledge. Results showed that respondents generally possessed a robust understanding of their condition; however, financial constraints significantly hindered access to appropriate treatment options, including potential curative therapies such as hematopoietic stem cell transplantation. Zimbabwean healthcare faces profound challenges, with less than 5% of patients receiving appropriate therapy within the first year of diagnosis.</p><p><strong>Conclusion: </strong>This study underscores the urgent need for enhanced patient support systems and policies to improve healthcare access for individuals with AA in Zimbabwe. Recommendations include the development of targeted awareness initiatives and supportive resources to elevate the quality of life for patients with aplastic anaemia.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"259-268"},"PeriodicalIF":2.1,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12134467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.","authors":"Ana Marco-Rico, José Manuel Calvo-Villas, Francisco-José López-Jaime, Mariana Canaro Hirnyk, Maria Del Mar Nieto Hernández, Sonia Herrero Martín, Laura Entrena-Ureña, Shally Marcellini-Antonio, Bolívar L Díaz-Jordán, Sergio Jurado-Herrera, Noelia Florencia Pérez-González, Covadonga García-Díaz, Faustino García-Candel, Ihosvany Fernández-Bello, Pascual Marco-Vera","doi":"10.2147/JBM.S517596","DOIUrl":"10.2147/JBM.S517596","url":null,"abstract":"<p><strong>Purpose: </strong>Patients with non-severe hemophilia A (PwnSHA) may be at risk for joint damage (JD), yet data remain scarce. Our aim was to evaluate the joint condition in PwnSHA in a real-world setting.</p><p><strong>Patients and methods: </strong>A nationwide, multicenter, cross-sectional study was conducted. To mitigate the impact of discrepancies between factor VIII (FVIII) assays, baseline FVIII levels were determined using chromogenic and one-step clotting assays. Mutation in F8 gene, baseline FVIII levels, thrombin generation and age were assessed. The joint condition was described using the HEAD-US score by trained specialists at each participating hospital.</p><p><strong>Results: </strong>One hundred and twenty-four patients were recruited, 84 of them with an available HEAD-US evaluation, who were finally included in our analysis. The median age was 38.4 years (18.3-48.5). Twenty percent (16/84) had moderate hemophilia (MoH) with FVIII levels of 4.0 IU/dL (2.6-4.6), and 80% (68/84) had mild hemophilia (MiH) with FVIII levels of 14.8 IU/dL (10.4-19.9), (p< 0.001). JD (HEAD-US>0) was observed in 50% (8/16) of MoH patients (HEAD-US= 6.5 [5.5-8.5]) and in 40% (27/68) of those with MiH (HEAD-US= 3.0 [2.0-6.5]), p=0.198. In the moderate group, JD was primarily observed in ankles (44%), while in the MiH group, knees were the most affected (31%). MoH patients reported a hypocoagulable thrombin generation profile compared to MiH patients (p<0.05).</p><p><strong>Conclusion: </strong>Near half of PwnSHA had JD. A worse joint health and a lower thrombin generation was observed in MoH population. These patients can benefit from an early prophylaxis and prevent further joint deterioration. Future research should explore additional variables that might influence joint condition.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"251-258"},"PeriodicalIF":2.1,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alpha+ Thalassemia in Northwestern Tanzania: Molecular and Hematological Insights From Newborn Screening.","authors":"Emmanuela E Ambrose, Benson R Kidenya, Luke R Smart, Alphaxard Manjurano","doi":"10.2147/JBM.S514273","DOIUrl":"10.2147/JBM.S514273","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to determine the prevalence of alpha+ thalassemia and its hematological indices in a newborn population in Mwanza city, North-western Tanzania.</p><p><strong>Patients and methods: </strong>A cross-sectional study screened 803 newborns for alpha+ thalassemia that extracted DNA from dried blood spots using the Qiagen Mini Kit then analysed by multiplex PCR. Demographic data, anemia-related clinical information, and CBC parameters were collected at birth. Prevalence was determined by the proportion of newborns with the alpha+ thalassemia deletion. Fisher's Exact test assessed differences in demographic and clinical variables, while Student's t-tests and ANOVA evaluated hematological parameters. A P-value < 0.05 was considered statistically significant.</p><p><strong>Results: </strong>Alpha thalassemia was detected in 49.6% (398/803) of neonates, with 38.6% heterozygous and 11.0% homozygous deletions. Significant differences in erythrocyte indices were observed across groups. Hemoglobin (Hb) levels were lower in heterozygous (_α/αα) and homozygous (_α/_α) newborns (16.42±3.62 g/dl and 16.04±3.37 g/dl, respectively) compared to the αα/αα group (17.03±3.35 g/dl, p < 0.05). Mean Corpuscular Volume (MCV) was reduced in heterozygous (_α/αα) and homozygous (_α/_α) groups (99.23±9.12 μm³ and 94.75±9.88 μm³, respectively) compared to αα/αα (102.41±9.56 μm³, p < 0.0001). Mean Corpuscular Hemoglobin (MCH) followed a similar pattern, being lowest in the homozygous group (p ≤ 0.0001). Red Cell Distribution Width (RDW) was higher in homozygous (_α/_α) newborns (10.03±1.22) compared to heterozygous (_α/αα) (9.57±0.79, p < 0.001). Leucocyte counts were significantly higher in heterozygous (_α/αα) newborns (13.91±12.14) compared to homozygous (_α/_α) (12.60±7.91) and αα/αα groups (11.26±9.76, p = 0.001).</p><p><strong>Conclusion: </strong>Alpha+ thalassemia is highly prevalent in North-western Tanzania and significantly affects blood indices. Neonatal screening is an effective tool for identifying affected children, especially in settings with high prevalence of a trait and low awareness of genetic inheritance.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"241-250"},"PeriodicalIF":2.1,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12087605/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}