bims-sicedi Biomed News
on Sickle cell disease
Issue of 2026–01–11
ten papers selected by
João Conrado Khouri dos Santos, Universidade de São Paulo
  1. Effect of Red Blood Cell Transfusion on Inflammatory and Angiogenic Pathways in Patients With Sickle Cell Disease.
  2. Asthma in Sickle Cell Disease: Impact on Vaso-occlusive Crisis and Pulmonary Outcome.
  3. Assessment of Urine Kidney Injury Molecule-1 as an Early Biomarker for Nephropathy in Sickle Cell Anaemia Patients.
  4. Association of Asthma with Acute Vaso-Occlusive Crisis Among French Guianese Children with Sickle Cell Disease: Correspondence.
  5. The small-molecule Syk inhibitor R788 inhibits hematopoiesis and worsens anemia in sickle cell disease mice.
  6. Association of Asthma with Acute Vaso-Occlusive Crisis Among French Guianese Children with Sickle Cell Disease: Authors' Reply.
  7. Impact of Isovolemic Hemodilution-Red Cell Exchange on Health-Related Quality of Life in Patients With Sickle Cell Disease: A Pilot Study.
  8. Sustained expression of hemopexin in an animal model of sickle cell anemia.
  9. Left ventricular geometric patterns and systolic myocardial performance in Nigerian children with homozygous sickle cell anaemia.
  10. Kidney function monitoring in pediatric sickle cell disease: evidence from the NEPHRODREPA study.
  1. Am J Hematol. 2026 Jan 06.
    Effect of Red Blood Cell Transfusion on Inflammatory and Angiogenic Pathways in Patients With Sickle Cell Disease.
    Lydian A de Ligt, Sanjay R Thakoerdin, Maud Zwolsman, Gaby Stegemann, Hanke Matlung, Taco W Kuijpers, Bart J Biemond, Karin Fijnvandraat, Robin van Bruggen, Erfan Nur.
      Sickle cell disease (SCD) is a chronic inflammatory state, characterized by increased plasma values of inflammatory and angiogenic proteins. Although red blood cell (RBC) transfusion is known to have immunomodulatory effects in other conditions, its potential effects on the inflammatory state in SCD remain largely unknown. This study aimed to explore the longitudinal effects of RBC transfusion on plasma inflammatory and angiogenic proteins in chronically transfused patients with SCD. Plasma samples were collected from SCD patients treated with either exchange (N = 12) or top-up (N = 12) transfusion prior to transfusion and 1 h, 24-72 h, 1 and 2 weeks post-transfusion. Proximity Extension Assay technology was used to measure plasma values of 21 proteins at each of these timepoints. Exchange transfusion resulted in decreased values of proteins released during inflammasome activation (IL-1β, IL-18), B cell survival and activation (TNFRSF13B/TACI, TNFRSF13C/BAFFR, TNFSF13/APRIL), angiogenesis (ANGPT2, VEGFA, KDR, CXCL12), and neutrophil differentiation, recruitment and activation (G-CSF, G-CSFR, CXCL1, CXCL5, CXCL6), at 1 h post-transfusion, returning gradually to values comparable to pre-transfusion values during 2 weeks post-transfusion. In contrast, top-up transfusion resulted in increased values of EPO and ANGPT1. While exchange transfusion seems to reduce the activation of pro-inflammatory and pro-angiogenic pathways, top-up transfusion might result in reduced hypoxia and increased vascular stability as suggested by the increased values of EPO and ANGPT1. These results enhance our understanding of the effects of RBC transfusion on inflammatory and angiogenic pathways and suggest that exchange transfusion has a stronger effect on these pathways in SCD patients compared to top-up transfusion.
    Keywords:  inflammation; proteomics; sickle cell disease; transfusion
    DOI:  https://doi.org/10.1002/ajh.70193
  2. Indian J Pediatr. 2026 Jan 09.
    Asthma in Sickle Cell Disease: Impact on Vaso-occlusive Crisis and Pulmonary Outcome.
    Kkomal C Suvarna, Jagdish Prasad Goyal.
      
    DOI:  https://doi.org/10.1007/s12098-025-05941-9
  3. Acta Medica (Hradec Kralove). 2025 ;68(3): 95-100
    Assessment of Urine Kidney Injury Molecule-1 as an Early Biomarker for Nephropathy in Sickle Cell Anaemia Patients.
    Akeem Olayinka Busari, Shola Lois Jolayemi, Muhammad Bello Ahmad, Renata Trentin Perdomo.
       BACKGROUND: Sickle cell anemia (SCA), a form of sickle cell disorder (SCD), is characterized by chronic hemolytic anemia, recurrent acute and persistent pain episodes, and progressive multiorgan complications. Among these, sickle cell nephropathy (SCN) is a significant and severe complication that may advance to chronic kidney disease (CKD), often beginning asymptomatically in childhood. Despite its clinical relevance, data on the early assessment of renal function in patients with SCA remain limited in Nigeria, hindering timely detection and intervention. This study, therefore, investigates the diagnostic utility of urinary kidney injury molecule-1 (KIM-1) as a biomarker for renal dysfunction in patients with steady-state SCA.
    OBJECTIVE: This study assessed urinary kidney injury molecule 1 as an early biomarker of nephropathy in patients with sickle cell anemia.
    METHOD: This cross-sectional comparative study included ninety participants, comprising forty-five individuals with a normal hemoglobin genotype (HbAA) and forty-five with sickle cell anemia (HbSS). Hemoglobin genotype was determined using cellulose acetate electrophoresis. Serum creatinine levels were measured using the modified Jaffe method, and the estimated glomerular filtration rate (eGFR) was calculated using the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation. Urinary kidney injury molecule-1 (KIM-1) concentrations were assessed using the enzyme-linked immunosorbent assay (ELISA) technique.
    RESULTS: This study observed no significant difference in mean age between the HbAA and HbSS groups (14.16 ± 2.54 vs. 13.52 ± 3.33 years; p = 0.121). However, the mean body mass index (BMI) was significantly higher in the HbAA group (21.40 ± 1.02 kg/m2) compared to the HbSS group (18.69 ± 2.19 kg/m2; p = 0.004). Serum creatinine levels did not differ significantly between the two groups (p = 0.311). In contrast, urinary KIM-1 levels were significantly elevated in the HbSS group relative to the HbAA group (p r = -0.64, p = 0.005; HbSS: r = -0.79, p = 0.002).
    CONCLUSION: The findings from this study observed no significant difference in serum creatinine levels between individuals with HbAA and HbSS genotypes. However, urinary KIM-1 concentrations were significantly higher in the HbSS group, with a stronger negative correlation with eGFR. These findings suggest that, while serum creatinine may not be effective in detecting early renal impairment in sickle cell anemia, urinary KIM-1 has promising potential for detecting renal dysfunction in this population.
    Keywords:  nephropathy; sickle cell anaemia; urinary kidney injury molecule 1
    DOI:  https://doi.org/10.14712/18059694.2025.27
  4. Indian J Pediatr. 2026 Jan 06.
    Association of Asthma with Acute Vaso-Occlusive Crisis Among French Guianese Children with Sickle Cell Disease: Correspondence.
    S Dhanya Dedeepya, Vaishali Goel, Nivedita Nikhil Desai.
      
    DOI:  https://doi.org/10.1007/s12098-025-05922-y
  5. Blood Vessel Thromb Hemost. 2026 Feb;3(1): 100118
    The small-molecule Syk inhibitor R788 inhibits hematopoiesis and worsens anemia in sickle cell disease mice.
    Bindu Parachalil Gopalan, Sayuri Kamimura, Pradeep Dagur, Duck-Yeon Lee, Niharika Shah, Martha Quezado, Zenaide Quezado, Arun S Shet.
      Vaso-occlusive crises, thrombosis, inflammation, and immune dysregulation contribute to organ damage and poor outcomes in sickle cell disease (SCD). Because neutrophils and dysregulated extracellular trap formation (NETosis) contribute to sickle pathophysiology, and the spleen tyrosine kinase (Syk) signaling pathway is a key driver of NETosis, we investigated the effect of targeting Syk with fostamatinib (R788). Specifically, we studied the effect of a selective Syk inhibitor, R788, on hematologic and biochemical parameters, NETosis, platelet P-selectin expression, and platelet-neutrophil aggregate formation in Townes sickle mice at baseline and after exposure to pathophysiological stressors (tumor necrosis factor α [TNF-α] and hypoxia-reoxygenation). Our results showed that at baseline R788 impaired hematopoiesis, and worsened anemia and neutropenia in sickle mice. Additionally, R788 at nontoxic doses had little, if any, effect on NETosis and platelet activation induced by TNF-α or hypoxia-reoxygenation. Severe anemia and neutropenia induced by R788 in the sickle mouse model suggests that concomitant use of Syk inhibitors with hydroxyurea in patients with SCD should be approached cautiously. Further research is required to clarify the benefits and risks of selective Syk inhibition in SCD and other hemolytic conditions exhibiting stress hematopoiesis.
    DOI:  https://doi.org/10.1016/j.bvth.2025.100118
  6. Indian J Pediatr. 2026 Jan 08.
    Association of Asthma with Acute Vaso-Occlusive Crisis Among French Guianese Children with Sickle Cell Disease: Authors' Reply.
    Gabriel Bafunyembaka, Mathieu Nacher, Chimène Maniassom, Archippe Birindwa, Narcisse Elenga.
      
    DOI:  https://doi.org/10.1007/s12098-025-05926-8
  7. J Clin Apher. 2026 Feb;41(1): e70083
    Impact of Isovolemic Hemodilution-Red Cell Exchange on Health-Related Quality of Life in Patients With Sickle Cell Disease: A Pilot Study.
    Alistair Murray, Davinder Sidhu, Natalia Rydz, Dawn Goodyear, Kelsey Uminski.
      Sickle cell disease (SCD) negatively affects health-related quality of life (HRQoL). Isovolemic hemodilution (IHD) red-cell exchange (RCE) is being increasingly used to treat SCD-related complications, but its impact on HRQoL has not been characterized. This single-center pilot study assessed the effect of switching from chronic conventional RCE to IHD-RCE on HRQoL. Adults with SCD receiving conventional RCE at the Foothills Medical Centre (Calgary, Canada) were assessed for eligibility to switch to IHD-RCE in March-May 2023. The primary outcome was HRQoL assessed before and 6 months after switching using the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me) questionnaire. Red blood cell (RBC) utilization, RCE characteristics, clinical parameters, and complications were also assessed before and after switching to IHD-RCE. Five patients were included. Overall, HRQoL was stable 6 months after switching from conventional RCE to IHD-RCE, with numeric improvements from baseline in sleep, stiffness, and emotional impact subscale scores. There were modest reductions in RBC utilization per RCE session but a small increase in RCE sessions per patient, with slightly fewer days between RCE sessions. Clinical parameters were largely unchanged 6 months after switching to IHD-RCE except for decreased ferritin levels and iron saturation and increased total iron-binding capacity. No emergency department visits or transfusion reactions were observed during follow-up. This pilot study suggests that SCD-related HRQoL is maintained after switching from conventional RCE to IHD-RCE, with potential benefits on sleep, stiffness, and emotional impact.
    Keywords:  isovolemic hemodilution; quality of life; red‐cell exchange; sickle cell disease; transfusion
    DOI:  https://doi.org/10.1002/jca.70083
  8. Blood Vessel Thromb Hemost. 2026 Feb;3(1): 100115
    Sustained expression of hemopexin in an animal model of sickle cell anemia.
    Franciele De Lima, Carla Roberta Peachazepi De Moraes, Ivanio Teixeira Borba-Junior, Heloísa Balan Assalin, Mario José Abdalla Saad, Fernando Ferreira Costa, Erich V De Paula.
      Sickle cell disease is a condition characterized by vaso-occlusive episodes and sustained hemolysis, leading to a chronic inflammatory state. Several studies have shown that the release of heme to the extracellular space due to hemolysis contributes to the inflammatory cascade observed in these patients. Hemopexin (HPX), the molecule responsible for removing excess heme from the circulation, is depleted in these patients. We have previously demonstrated that the IV infusion of an adeno-associated virus-based gene transfer vector was capable of inducing the transgenic expression of HPX in a dose-dependent manner in C57Bl6 mice. Here, we explored the effect of this vector in a mouse model of sickle cell anemia. Townes mice were transduced with 2 × 1013 vector genomes per kilogram and followed up for up to 48 weeks. HPX expression was confirmed in liver samples by both western blot and quantitative polymerase chain reaction (HPX), but gene transfer did not restore circulating levels of HPX in Townes mice, as shown in models without hemolysis. Indirect surrogate markers of a beneficial effect of delivering HPX were observed, including increased expression of heme-oxygenase 1 upon heme overload, greater weight gain on the long-term follow-up, and a significant decrease in tumor necrosis factor α levels. No signs of liver or hematological toxicity were observed. Our results demonstrate the potential and challenges of therapeutic strategies based on the long-term delivery of HPX in an animal model of sickle cell anemia.
    DOI:  https://doi.org/10.1016/j.bvth.2025.100115
  9. BMC Cardiovasc Disord. 2026 Jan 08.
    Left ventricular geometric patterns and systolic myocardial performance in Nigerian children with homozygous sickle cell anaemia.
    Igoche D Peter, Mustafa O Asani, Shehu U Abdullahi, Ibrahim Aliyu, Josephat M Chinawa, Stephen K Obaro, Fidelia Bode-Thomas.
      
    Keywords:  Children; Ejection fraction; Left ventricular hypertrophy; Left ventricular systolic dysfunction; Sickle cell anaemia
    DOI:  https://doi.org/10.1186/s12872-025-05497-8
  10. Pediatr Nephrol. 2026 Jan 04.
    Kidney function monitoring in pediatric sickle cell disease: evidence from the NEPHRODREPA study.
    Élise Larché, Joy Benadiba, Pierre Simon Rohrlich, Camille Faudeux, Etienne Bérard, Fabrice Monpoux, Caroline Grangeon, Carine Cerato-Blanc, Jennifer Battista, Marie Meyronnet, Jeanne Bernat, Valeriia Rezapova, Laurence Derain Dubourg, Claus Peter Schmitt, Julie Bernardor.
       BACKGROUND: Sickle cell disease (SCD) induces early kidney abnormalities, beginning in childhood with glomerular hyperfiltration and progressing toward chronic kidney disease. Estimating glomerular filtration rate (GFR) in these patients remains challenging due to limitations of creatinine-based formulas. This study aimed to assess kidney function in children and young adults with SCD using isotopic GFR measurement and various estimation equations, including creatinine and cystatin C-based formulas.
    METHODS: NEPHRODREPA is a prospective pilot study including 17 patients (age 4-21 years) followed at the University Hospital of Nice. In addition to the annual check-up, serum cystatin C and 99mTc-DTPA plasmatic clearance were measured. GFR was estimated using the 2009 Schwartz formula, and the CKiDU25 equations based on creatinine, cystatin C, or both. Additional kidney markers were assessed.
    RESULTS: The median GFR measured by 99mTc-DTPA was 111 [102-118] mL/min/1.73 m2. The Schwartz 2009 and CKiDU25 creatinine-based formulas overestimated GFR by 23% and 17%, respectively. The CKiDU25 combined formula overestimated by 10%, while the cystatin C-only formula appeared closer to measured GFR (5%); it yielded the lowest mean bias and showed higher dispersion than the combined equation. Hyposthenuria was observed in 7/17 patients and renin-angiotensin-aldosterone system imbalance in 8/17, with elevated blood pressure in two cases.
    CONCLUSION: This study suggests that in young patients with SCD without known nephropathy, the CKiDU25 equation using serum cystatin C, provides GFR estimates close to the gold standard isotopic measurement. Early tubular dysfunction is prevalent and may justify therapeutic interventions. These findings warrant confirmation in larger cohorts.
    Keywords:  Children; Chronic kidney disease; Hyposthenuria; Kidney function; Sickle cell disease
    DOI:  https://doi.org/10.1007/s00467-025-07130-4
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