bims-sicedi Biomed News
on Sickle cell disease
Issue of 2025–07–27
seven papers selected by
João Conrado Khouri dos Santos, Universidade de São Paulo
  1. Utilization of Fetal Hemoglobin Parameters in Predicting Clinical Severity of Sickle Cell Disease: Retrospective Study From a Tanzanian Cohort.
  2. Sickle Cell Diastolic Cardiomyopathy and Mortality Risk: A Novel Echocardiographic Framework for Prognostic Stratification.
  3. Transiently acquired hemoglobin variants in patients with sickle cell disease: A case series and systematic review of the literature.
  4. Breaking barriers: Enhancing hospital support for sickle cell disease management.
  5. Mortality from sickle cell disease in Brazil.
  6. Biomarker signatures for sickle cell pain.
  7. Emergency care for children with sickle cell disease: a focus on pain and fever.
  1. J Blood Med. 2025 ;16 321-330
    Utilization of Fetal Hemoglobin Parameters in Predicting Clinical Severity of Sickle Cell Disease: Retrospective Study From a Tanzanian Cohort.
    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.
       Background: 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.
    Methods: 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.
    Results: 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.
    Conclusion: 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.
    Keywords:  F cell; clinical parameters; disease severity; fetal hemoglobin per F cell; sickle cell
    DOI:  https://doi.org/10.2147/JBM.S493425
  2. Am J Hematol. 2025 Jul 22.
    Sickle Cell Diastolic Cardiomyopathy and Mortality Risk: A Novel Echocardiographic Framework for Prognostic Stratification.
    Théo Simon, Laurent Savale, Kristoffer Grundtvig Skaarup, Paul Breillat, Luu-Ly Pham, Seyed-Mehdi Nouraie, Niklas Dyrby Johansen, Jocelyn Inamo, Francois Lionnet, Gylna Loko, Christelle Chantalat, Anne Laure Pham Hung d'Alexandry d'Orengiani, Anoosha Habibi, Gonzalo de Luna, Sihem Iles, Frédéric Galactéros, Etienne Audureau, Tor Biering-Sørensen, Pablo Bartolucci, Geneviève Derumeaux, Thomas d'Humières.
      Cardiovascular complications are the leading cause of mortality in sickle cell anemia (SCA) patients. While extensive data have identified diastolic dysfunction (DD) to increase morbidity and mortality, the unique hemodynamic conditions inherent to SCA challenge the current recommendations to assess diastolic function. Thus, there is an urgent need to refine the echocardiographic definition of DD to improve risk stratification and therapeutic strategies in SCA patients. We analyzed data from the French multicentric Etendard cohort and compared them with an age- and sex-matched control group from the Copenhagen City Heart Study (CCHS). We focused on left ventricular diastolic parameters, specifically lateral e' velocity (e' lat), E/e' ratio, and indexed left atrial volume (LAVi), assessing their association with clinical outcomes over a 12-year follow-up. Etendard SCA patients (n = 379) had an early impaired diastolic function compared to the CCHS controls (n = 672). This was particularly obvious in young SCA patients (n = 252, age ≤ 38 years) in whom e' lat was associated with prognosis (p = 0.01), with an optimal cut-off value below 11 cm/s. Indeed, young SCA patients with DD had a fourfold increased 12-year mortality rate as compared with SCA patients without DD (16 vs. 4%, p < 0.001). Additionally, e' lat correlated with 6-min walk test, NT pro-BNP levels, diastolic blood pressure, and lactate dehydrogenase levels. In young SCA patients, our data contribute to refine the diagnosis of diastolic dysfunction evaluation. We highlight the prognostic value below 11 cm/s of lateral e' velocity and its association with key contributors of cardiac impairment such as hemolysis and systemic vasculopathy. Trial Registration: ClinicalTrials.gov identifier: NCT00434902.
    Keywords:  diastolic dysfunction; echocardiography; pulmonary hypertension; sickle cell disease
    DOI:  https://doi.org/10.1002/ajh.27768
  3. Transfus Apher Sci. 2025 Jul 14. pii: S1473-0502(25)00145-4. [Epub ahead of print]64(5): 104207
    Transiently acquired hemoglobin variants in patients with sickle cell disease: A case series and systematic review of the literature.
    Maha Al-Ghafry, Abraham Haimed, Tamara New, Carrie Gann, Sabrina Racine-Brzostek, Jed B Gorlin, Cassandra D Josephson, Alexandra Jimenez.
       INTRODUCTION: Patients with sickle cell disease (SCD) are transfused phenotypically-matched red blood cells (RBCs) for various indications. While screening for units that are sicklenegative is standard practice, the transfusion of RBCs containing other hemoglobin variants can be of concern to transfusion services and clinicians due to possible adverse events. Thus, this study aimed to review possible adverse events in patients with SCD with transiently acquired hemoglobin variants.
    METHODS: A case series of pediatric patients with SCD receiving chronic transfusions are presented, along with a systematic review of patients with SCD who were noted to have a transiently acquired hemoglobin variant. Data and patient outcomes were extracted and summarized.
    RESULTS: For the case series, 3 pediatric patients had transiently noted HbC peaks, with no adverse events documented. For the systematic review, 12 studies were included with a total of 75 patients with SCD. HbC was the most common hemoglobin variant in > 90 %. Other variants noted were: HbD, HbJ, HbD/G, HbG- Philadelphia, HbA2', and HbO-Arab. The maximum peak of reported variants was < 20 % (14 % for HbC). No clinically significant adverse events were reported secondary to these transiently acquired variants.
    CONCLUSION: Transiently acquired hemoglobin variants are commonly encountered in transfused patients with SCD, with no reported clinically significant adverse outcomes. Because phenotypic matching prioritizes donors with similar racial backgrounds, it increases the likelihood that the donor may carry hemoglobin variants. Blood centers and transfusion services should be aware of this phenomenon and avoid deferring donors with nonsickle hemoglobin variants.
    Keywords:  Exchange transfusion; Hemoglobin C; Hemoglobinopathy; Pediatric exchange; Red blood cells; Sickle cell anemia; Sickle cell disease
    DOI:  https://doi.org/10.1016/j.transci.2025.104207
  4. J Public Health Res. 2025 Jul;14(3): 22799036251356775
    Breaking barriers: Enhancing hospital support for sickle cell disease management.
    Narcisse Elenga, Abdelaziz Fahem.
       Background: Sickle cell disease (SCD) management requires comprehensive care coordination and specialised resources, particularly in endemic regions. We describe the implementation and outcomes of a unique model, the Integrated Centre for Sickle Cell Disease (CID), in French Guiana, a region with high SCD prevalence.
    Design and methods: We established a comprehensive SCD care centre incorporating dedicated clinical space, specialised staff, and integrated emergency services. The model included 24/7 specialist availability, priority admission protocols, and a day hospital facility for managing acute complications.
    Results: The CID currently serves 740 patients (280 children, 406 adults, including 23 elderly patients aged 60-72 years). In 2022, the centre documented 4673 patient visits, comprising 2209 consultations and 417-day hospitalisations. Of these day hospitalisations, 229 were for vaso-occlusive crises, 147 for erythropheresis, 13 for therapeutic bleeding, and 28 for plasmaphaeresis. Most notably, following CID's establishment, emergency room deaths were eliminated, compared to 2-3 annual deaths previously reported due to acute splenic sequestration. The centre maintained this achievement over eight consecutive years.
    Conclusions: The CID model demonstrates successful implementation of comprehensive SCD care in a resource-limited setting. The complete elimination of emergency room deaths over 8 years, along with improved patient retention and follow-up, suggests that this model could serve as a template for other regions with high SCD prevalence. The success of this approach highlights the importance of integrated, specialised care in managing SCD effectively.
    Keywords:  best practice; management; multidisciplinary approach; sickle cell disease; treatment
    DOI:  https://doi.org/10.1177/22799036251356775
  5. PLOS Glob Public Health. 2025 ;5(7): e0002066
    Mortality from sickle cell disease in Brazil.
    Recipient Epidemiology and Donor Evaluation Study-III (REDS-III) International Component Brazil
      Despite early diagnosis through neonatal screening and improved access to vaccines, antibiotics, and disease-modifying therapies, many individuals with sickle cell disease (SCD) die before age 60. This study evaluated causes and independent predictors of mortality in a Brazilian SCD population using data from the multicenter REDS-III cohort [2013-2018], which included six centers. Eligible patients were randomly enrolled during routine visits. Clinical and laboratory data were abstracted from medical records, and deaths were confirmed via chart review and linkage to the national death certificate database. Key variables were compared between deceased and surviving adults using Chi-square and Mann-Whitney tests. A multivariable Cox regression model identified independent predictors of mortality. Children were excluded from regression analysis due to low pediatric mortality. Among 2,793 participants, 1,558 (55.8%) were under 18. By the end of follow-up, 159 (5.7%) had died-142 adults and 17 children. Median life expectancy was 65.7 years. Infection was the leading cause of death (33.3%), followed by non-infectious pulmonary conditions (25.2%) and neurologic disease (14.5%). Cause of death was unknown in 3.1% of cases. In adults, independent predictors of mortality were older age [HR 1.03; 95% CI 1.01-1.04], iron overload [HR 1.68; 95% CI 1.09-2.60], and prior hospital admissions [HR 1.68; 95% CI 1.10-2.56]. The mortality burden in SCD is shifting toward adults, particularly in the third and fourth decades of life. Individuals with SCD in Brazil die about 10 years earlier than the general population. The main causes of death in our cohort were infections, acute chest syndrome and stroke, highlighting the need for prompt recognition and treatment of these complications. Screening and treatment for iron overload and closer monitoring and consideration of disease modifying therapies for patients with frequent hospital admissions are important as both were identified as independent predictors of mortality.
    DOI:  https://doi.org/10.1371/journal.pgph.0002066
  6. Blood Adv. 2025 Aug 12. 9(15): 3821-3823
    Biomarker signatures for sickle cell pain.
    Kalpna Gupta, Vidhya Kumaresan.
      
    DOI:  https://doi.org/10.1182/bloodadvances.2025016707
  7. Expert Rev Hematol. 2025 Jul 24.
    Emergency care for children with sickle cell disease: a focus on pain and fever.
    Rawan Korman, Dunia Hatabah, Claudia R Morris.
       INTRODUCTION: Sickle cell disease (SCD) is an inherited blood disorder affecting approximately 100,000 individuals in the United States and millions worldwide, characterized by acute vaso-occlusive pain episodes (VOEs) and other complications that frequently necessitate emergency department (ED) visits.
    AREAS COVERED: Despite therapeutic advancements, ED care remains a major concern, often cited by patients as the area of healthcare most in need of improvement. National guidelines have been established to ensure ideal emergency SCD care and management, however, these guidelines do not address barriers or facilitators that affect implementation in the complex ED setting. This review examines current diagnostic and management approaches for common SCD complications requiring ED utilization, particularly fever and pain in pediatric patients. It highlights the challenges children with SCD face in emergency care and the existing knowledge gaps. Despite guidelines recommending timely, individualized pain treatment, implementation remains inconsistent, resulting in prolonged suffering and increased hospitalizations.
    EXPERT OPINION: Future research should focus on enhancing guideline adherence, reducing disparities, and developing targeted therapies. Novel biomarkers could improve early diagnosis, while standardized severity scoring systems may optimize triage and treatment decisions. Advancing biomarker research and investigational therapies beyond traditionnal supportive care holds promise for improving SCD management and patient outcomes.
    Keywords:  Acute chest syndrome; ED; SCD; Voes; advances in research; emergency department; fever; guidelines; investigational therapy; pain; sickle cell disease; vaso-occlusive pain episodes
    DOI:  https://doi.org/10.1080/17474086.2025.2538537
This page is being maintained by Thomas Krichel. It was last updated on 2025‒08‒02 at 23:19.