bims-sicedi Biomed News
on Sickle cell disease
Issue of 2025–09–21
seven papers selected by
João Conrado Khouri dos Santos, Universidade de São Paulo
  1. TBI and TMI as Alternative Treatments for Sickle Cell Disease.
  2. Hematopoietic stem cell therapy with gene modification to treat sickle cell disease.
  3. Access to hydroxyurea in Sub-Saharan Africa remains a neglected response to sickle cell disease: reply to use of hydroxyurea in French-speaking Sub-Saharan Africa article.
  4. Morbidity and mortality of sickle cell disease in Côte d'Ivoire.
  5. Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review.
  6. Lower rates of maternal morbidities among pregnant women suffering from sickle cell disease who are exposed to hydroxyurea, a retrospective study from tribal area of Western India.
  7. Exploring Dysregulated Plasma Metabolites in Sickle-Cell Disease Patients Using Comparative NMR-Based Metabolomics.
  1. Radiol Technol. 2025 Sep-Oct;97(1):97(1): 56-58
    TBI and TMI as Alternative Treatments for Sickle Cell Disease.
    Tavia Keys, Jody Nutt.
      
  2. Stem Cells Transl Med. 2025 Sep 11. pii: szaf042. [Epub ahead of print]14(9):
    Hematopoietic stem cell therapy with gene modification to treat sickle cell disease.
    Julia Ball, Avery Bradley, Anh Le, John F Tisdale, Naoya Uchida.
      Hematopoietic stem cells (HSCs) reconstitute blood cells throughout life. DNA-level correction of HSCs allows for a one-time cure of genetic diseases, including sickle cell disease (SCD). Sickle cell disease is one of the most common single-gene disorders; therefore, SCD is a prime candidate for gene therapy. Several drug therapies are available for SCD, including hydroxyurea, which is the first-line choice despite requiring lifelong administration. Allogeneic HSC transplantation is a one-time, curative treatment for SCD with limited availability of histocompatible donors. Therefore, autologous HSC gene therapy was developed using patients' own HSCs with lentiviral gene addition/silencing and clustered regularly interspaced short palindromic repeats gene editing, making gene therapy applicable to most patients. However, the established method of HSC gene therapy requires costly and complex ex vivo HSC culture. Therefore, in vivo HSC gene therapy is being developed to treat SCD, envisioning a single-injection HSC-targeted gene delivery system. This review discusses various therapeutic methods to treat SCD, the development of HSC gene therapy, and clinical gene therapy trials in SCD, ranging from FDA-approved to novel in vivo gene therapy.
    Keywords:  gene editing; gene therapy; hematopoietic stem cells; in vivo delivery; lentiviral vector; sickle cell disease
    DOI:  https://doi.org/10.1093/stcltm/szaf042
  3. Ann Hematol. 2025 Sep 15.
    Access to hydroxyurea in Sub-Saharan Africa remains a neglected response to sickle cell disease: reply to use of hydroxyurea in French-speaking Sub-Saharan Africa article.
    Paulo João Ferreira de Almeida.
      
    DOI:  https://doi.org/10.1007/s00277-025-06513-9
  4. Ann Hematol. 2025 Sep 19.
    Morbidity and mortality of sickle cell disease in Côte d'Ivoire.
    Jacques Fabrice Konan Koffi, Renée-Paule Botti, Roméo Ayemou, Aya Annick Charlene N'dri, Awa Ouattara, Eudoxie-Emmanuelle Gneblo, Kouassi Gustave Koffi.
      Sickle cell anemia is a frequent constitutional disease with serious consequences. Despite the progress made in its management, morbidity and mortality. The aim of this study was to contribute to the study of morbidity and mortality in sickle cell disease in Côte d'Ivoire. retrospective, descriptive and analytical, bi-centric study based on 315 sickle cell patients followed from January 2011 to January 2021, selected according to a systematic random selection. The mortality rate was 15.2%, with acute severe anemia topped the list at 45.8%, followed by infections at 29.2%. The mean age was 18.44 years. Females predominated, with a sex ratio of 0.7. Access to treatment was difficult for 23%, and 86% of patients were uninsured. Clinically, 49.5% of patients had been hospitalized, and the main reason for hospitalization was vaso-occlusive crisis. (73%). 76.5% of subjects were not up to date with their vaccinations. 99% of patients had a treatment, including vasodilators 79.8% vasodilators and 68.9% folic acid. Follow-up was acceptable in 72.3% of cases. The incidence rate of complications was 26%, and the three groups anemic, infectious and ischemic complications, with a predominance of anemic complications at 45.1%. The incidence of complications and mortality remain high; the main causes are the same as those literature.
    Keywords:  Ivory coast; Morbidity; Mortality; Sickle cell disease
    DOI:  https://doi.org/10.1007/s00277-025-06512-w
  5. Blood Rev. 2025 Sep 06. pii: S0268-960X(25)00083-9. [Epub ahead of print] 101338
    Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review.
    Sigrid van der Veen, Judith J M Jans, Eduard J van Beers, Bart J Biemond, Pablo Bartolucci, Maria Paola Boaro, Anna Collado Gimbert, Raffaella Colombatti, Mirco D'Agnolo, Karin J Fijnvandraat, Amira Idrizovic, Petros Kountouris, Mar Mañú Pereira, Elisabetta Mezzalira, Minke A E Rab, Anita W Rijneveld, Tiziana Sanavia, Nanda M Verhoeven-Duif, Marjon H Cnossen.
      Sickle cell disease (SCD) has large phenotypic variability. Systematic metabolomic profiling may provide insights into phenotypes and treatment responses. We conducted a scoping review on associations between blood metabolites, SCD-related complications, and therapies in studies analyzing ≥10 metabolites in red blood cells, whole blood, and plasma. Lipidomics-focused studies were excluded. Fifteen studies were included, focusing on metabolic profiling, clinical outcomes, or therapies (hydroxyurea, transfusion, and mitapivat). Metabolic profiling differentiated SCD from healthy controls and patients with HbSS and HbSC genotypes. Associations with hemolysis, vaso-occlusive events, nephropathy, TRV, and mortality were identified. Overall, metabolites were involved in arginine, tryptophan, glutamate metabolism, glycolysis, pentose phosphate pathway, and the Lands cycle. Some metabolites showed opposite correlations across complications or sample types. Despite growing interest, gaps remain in study designs, metabolite selection, genotype representation, and underexplored complications and therapies. Standardized, large-scale metabolomics studies are needed to advance personalized treatment in SCD.
    Keywords:  Hemoglobinopathy; Mass spectrometry; Metabolism; Metabolomics; Sickle cell anemia; Sickle cell disease
    DOI:  https://doi.org/10.1016/j.blre.2025.101338
  6. Expert Rev Hematol. 2025 Sep 17. 1-7
    Lower rates of maternal morbidities among pregnant women suffering from sickle cell disease who are exposed to hydroxyurea, a retrospective study from tribal area of Western India.
    Gayatri Desai, Hasmukh Balar, Kapilkumar Dave, Shrey Desai.
       BACKGROUND: Sickle cell disease (SCD) is a common inherited blood disorder causing high maternal and fetal morbidity during pregnancy. Hydroxyurea (HU) is a standard SCD therapy, but its safety in pregnancy remains uncertain due to concerns about congenital anomalies. This study evaluates maternal-fetal outcomes in pregnant women with SCD who received HU versus those who did not.
    RESEARCH DESIGN AND METHODS: A retrospective review was conducted at Kasturba Hospital, Gujarat, India. Pregnant women with SCD who received HU were compared with a historic control group. Maternal morbidities, fetal outcomes, and congenital anomalies were assessed. Poisson regression was done.
    RESULTS: Among a total of 235 pregnant women with SCD, 154 received HU (440.5 person-months), while 81 did not (269.6 person-months). The HU group had a lower adverse maternal event score (91.2 vs. 109.8 per 100 person-months, adjusted IRR 0.82, 95% CI 0.71-0.96, p = 0.01) and reduced maternal morbidity, blood transfusion needs, complications, and deaths. No significant increase in congenital anomalies was observed. Fetal-outcomes, including live-birth, stillbirth, low birth weight, and prematurity, were comparable between groups, with no statistically significant differences.
    CONCLUSIONS: HU use in pregnancy lowered maternal morbidity without increasing congenital anomalies. Further prospective studies are needed in resource-limited settings.
    Keywords:  HU; SCD; Sickle cell disease; congenital anomalies; hydroxyurea; maternal morbidity; pregnancy outcomes
    DOI:  https://doi.org/10.1080/17474086.2025.2562080
  7. Magn Reson Chem. 2025 Sep 18.
    Exploring Dysregulated Plasma Metabolites in Sickle-Cell Disease Patients Using Comparative NMR-Based Metabolomics.
    Libun Pradhan, Chinmay Kumar Sahoo, Blessymol Varghese, Prasanta Purohit, Manoj Kumar Patro, Samira Kumar Behera, Sulakshana P Mukherjee.
      Sickle-Cell Disease (SCD) is one of the most common autosomal recessive genetic blood disorders that manifest in abnormal behavior of the red blood cells (RBCs). The mutated Hb causes sickling of RBCs under deoxygenated conditions, reducing their flowing ability, pliability, and resulting in hemolysis. The pathophysiology observed in the Indian cohort varies regionally, with some Indian tribal populations depicting milder symptoms despite SCD being relatively prevalent among them. To understand the pathogenesis of SCD with respect to nongenetic parameters, we initiated a comparative untargeted metabolomics study of the eastern Indian cohort of SCD patients using 1H NMR spectroscopy. In this exploratory study, we focused only on a small cohort of 26 SCD patients from the eastern part of India with relatively high prevalence of SCD. Our NMR-based metabolomics, in combination with statistical analyses, yielded 11 of the 29 identified metabolites that showed a statistically significant difference in concentrations between healthy controls and SCD patients. The dysregulated metabolites include molecules involved in glycolysis, hypoxic, and acute-stress conditions.
    Keywords:  1H; NMR; SCD; glycine; glycolysis; pyruvate
    DOI:  https://doi.org/10.1002/mrc.70044
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