bims-sicedi 2025-02-09 papers

Hemasphere. 2025 Feb;9(2): e70082

BMJ. 2025 Jan 31. 388 r210

NICE approves gene editing therapy for patients with severe sickle cell disease.

Am J Hematol. 2025 Feb 06.

Recipient Cells Are the Source of Hematologic Malignancies After Graft Failure and Mixed Chimerism in Adults With SCD.

Mohamed A E Ali, Emily M Limerick, Matthew M Hsieh, Kalpana Upadhyaya, Xin Xu, Oswald Phang, Jean Pierre Kambala Mukendi, Katherine R Calvo, Maria Lopez-Ocasio, Pradeep Dagur, Courtney D Fitzhugh.

Keywords: marrow/stem cell transplantation; neoplasia‐myeloid leukemias and dysplasias; sickle cell disease

DOI: https://doi.org/10.1002/ajh.27627

Ann Hematol. 2025 Feb 05.

Use of hydroxyurea in French-speaking Sub-Saharan Africa.

Jean-Benoît Arlet, Françoise Bernaudin, Indou Deme-Ly, Binta Coulibaly, Anne Corbasson, Ibrahima Diagne, Dapa Diallo, Saliou Diop, Charlotte Eposse, Frédéric Galacteros, Olivier Hermine, Eléonore Kafando, Agnès Lainé, Mariane de Montalembert, Constant Vodouhé, Ahoefa Vovor, Brigitte Ranque, Léon Tshilolo.

The hydroxyurea is a save, affordable and essential medicine for sickle cell disease (SCD), reducing painful crises and mortality. To foster the prescription of hydroxyurea for patients with SCD in sub-Saharan African countries, the scientific advisory board of Drep.Afrique, a non-governmental organization dedicated to SCD in Africa, has developed a therapeutic guideline well suited to conditions on the ground. These guidelines answer three essential questions: which patients should be prioritized for treatment with hydroxyurea, which dose should be used, and what follow-up should be implemented in those low-resources countries? The guidelines are given as in a concise document for easy use by practitioners on the ground, available in English and in French.

Keywords: Africa; French-speaking countries; Guidelines; Hydroxyurea; Sickle cell disease

DOI: https://doi.org/10.1007/s00277-024-06180-2

Eur J Clin Microbiol Infect Dis. 2025 Feb 02.

Central-venous-catheter-related bloodstream infections in adult patients with sickle cell disease: a retrospective, two-centre study.

Matthieu Holub, David Lebeaux, Patrick Grohs, Laure Joseph, Olivier Pellerin, Geoffrey Cheminet, Najiby Kassis, Salomé Abdellaoui, Jacques Pouchot, Brigitte Ranque, Jean Benoit Arlet, Emmanuel Lafont.

PURPOSE: Although catheter-related infections are the leading cause of bloodstream infections in patients with sickle cell disease (SCD), data are scarce in adult patients. The objectives of the present study were to describe central-venous-catheter-related bloodstream infections in patients with SCD and identify risk factors.
METHODS: We conducted a retrospective, observational study of adult patients with SCD diagnosed with central-venous-catheter-related bloodstream infections between 2011 and 2023 in two SCD reference centres. Each patient with SCD and a bloodstream infection related to a totally implantable venous access port was matched with two control patients with SCD and an infection-free totally implantable venous access port.
RESULTS: Thirty-five (6.6%) of the 534 patients experienced a total of 69 central-venous-catheter-related bloodstream infections. Concomitant vaso-occlusive crises were observed for 81.2% of the infections. The 30-day mortality rate was 2.8%, and the infection recurrence rate was 45.7%. We observed 26 totally implantable venous access port-related bloodstream infections in 19 patients, with an incidence rate of 0.31 per 1000 catheter-days. After adjustment, the frequency of hospital admission for a vaso-occlusive crisis (odds ratio (OR) [95% confidence interval (CI)] = 1.6 [1.2-2.4]) and the presence of a psychiatric comorbidity (19.8 [4.0-148.1]) remained significantly associated with totally implantable venous access port-related bloodstream infections. Suboptimal antibiotic levels were observed in five (39%) of the 13 patients having undergone therapeutic drug monitoring. The treatment failed in four (80%) of the five patients, who presented with glomerular hyperfiltration.
CONCLUSION: A central-venous-catheter-related bloodstream infection is a severe complication in adult patients with SCD and is associated with psychiatric comorbidities and severe SCD.

Keywords: Bloodstream infection; Central venous catheter; Sickle cell disease

DOI: https://doi.org/10.1007/s10096-024-05035-y

Thyroid Res. 2025 Feb 03. 18(1): 3

Thyroid function abnormalities in individuals with sickle cell disease: a meta-analysis.

Sagad O O Mohamed, Hussein Ahmed, Mohammed A H Mohammednoor, Khalefa B K Alzubeir, Safaa Fadlelmoula, Osman O A Abdallah, Izzut Awad Ahmed.

BACKGROUND: There has been an increasing comprehension and recognition of endocrine dysfunction among both pediatric and adult patients with sickle cell disease (SCD). Thyroid disorders can have significant clinical consequences, including growth retardation and impaired cognitive function. However, there is a disparity in the available data concerning the magnitude and spectrum of thyroid abnormalities in this population. This review aimed to provide a systematic summary and analyses on the status of thyroid function abnormalities in individuals with SCD.
METHODS: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, a comprehensive search was conducted across Medline/PubMed, Google Scholar, World Health Organization Virtual Health Library Regional Portal, and ScienceDirect. Pooled prevalence and standardized mean difference (SMD) estimates with 95% confidence intervals (CIs) were calculated using Comprehensive Meta-Analysis Software version 3.3.
RESULTS: Nineteen studies met the inclusion criteria and were incorporated into the analyses. Serum thyroid-stimulating hormone (TSH) levels were significantly higher in SCD patients compared to controls (SMD = 1.184; 95% CI, 0.269-2.099; p = 0.011). While non-significant, there was a trend towards lower levels of triiodothyronine (T3), thyroxin (T4), free T3, and free T4 in the SCD group (T3: SMD = -1.746; 95% CI, -3.561-0.070; p = 0.059; T4: SMD = -1.365; 95% CI, -3.030-0.300; p = 0.108; free T3: SMD = -0.384; 95% CI, -1.128-0.356; p = 0.311; free T4: SMD = -1.205; 95% CI, -2.522-0.111; p = 0.073). The pooled prevalence of hypothyroidism and subclinical hypothyroidism among SCD patients was found to be 4.9% and 8.7%, respectively.
CONCLUSION: Individuals with SCD exhibit a tendency towards elevated TSH levels compared to the general population, with a subset potentially developing thyroid abnormalities, particularly subclinical hypothyroidism. Although not highly prevalent in the SCD population, monitoring thyroid function remains essential due to the potential for progression to overt hypothyroidism and its associated adverse health outcomes.

Keywords: Hypothyroidism; Meta-analysis; Sickle cell disease; Thyroid

DOI: https://doi.org/10.1186/s13044-024-00220-9

Transplant Cell Ther. 2025 Feb;pii: S2666-6367(25)00036-3. [Epub ahead of print]31(2): 66-68

RBC Alloimmunization in SCD: Chipping Away at the Iceberg of Implications.

Rcg Azbell, P C Desai.

DOI: https://doi.org/10.1016/j.jtct.2025.01.035

Cureus. 2025 Jan;17(1): e76734

Risk Factors Associated With Osteonecrosis of the Femoral Head in Patients With Sickle Cell Disease: A Systematic Review and Meta-Analysis.

Mahmoud Mohammed Hassaan, Alhassan H Hobani, Hanan A AlKaabi, Ahmad A Shugairi, Khlood K Alattas, Mohsen J Zaylaee, Hanen I Alsuri, Mohammad S Alnejaidi, Raghad M Aljuaid, Hayam A Alzahrani, Fatema S Mohamed Mahfoodh, Muteb N Alotaibi, Yazeed M Aldalbahi, Abdulmalik M Almukhashi, Mohammad A Alhazmi.

Osteonecrosis of the femoral head (ONFH) is a serious complication in patients with sickle cell disease (SCD), secondary to the peculiar pathophysiology of the disease. SCD is characterized by stiff and adhesive RBCs, disturbing blood circulation, and causing ischemia and microvascular damage. Understanding the key risk factors contributing to ONFH in this population is critical for developing targeted interventions to improve outcomes in this population. This study aimed to identify and analyze the key risk factors associated with osteonecrosis of the femoral head (ONFH) in patients with sickle cell disease (SCD) through a comprehensive systematic review and meta-analysis. This meta-analysis used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) tool to search and select the most relevant studies from electronic databases, like Web of Science, Google Scholar, PubMed, Cochrane Library, Embase, and MEDLINE, based on the study focus. The following medical phrases were used in the search: femoral head, aseptic necrosis, osteonecrosis, predictor, risk factor, and sickle cell disease. The study included six studies with a total of 581 participants. Four significant risk factors for ONFH in SCD were identified as follows: genotype (risk ratio: 1.09, 95% CI: 0.94-1.27), elevated hemoglobin levels (mean difference: 0.30, 95% CI: -0.03 to -0.63), hip pain (risk ratio: 1.11, 95% CI: 0.80-1.55), and acute chest pain (mean difference: 1.17, 95% CI: 0.87-1.47). Statistical analysis showed low heterogeneity across studies (I²: 0%, p < 0.05), indicating consistent findings. The ONFH group was more significantly affected by these factors than the comparator group. The meta-analysis revealed an intricate interplay of vascular, hematologic, and systemic factors contributing to ONFH of SCD with the four significant risk factors mainly genotype, elevated hemoglobin levels, hip pain, and acute chest pain. Therefore, it is important to carry out regular check-ups and focus on specific treatments to manage these clearly identified risk factors, which can help slow down the progression of the disease.

Keywords: aseptic necrosis; femoral head; osteonecrosis; predictor; risk factor; sickle cell disease

DOI: https://doi.org/10.7759/cureus.76734