Sickle cell disease is a major public health problem in Guinea, where access to disease-modifying therapy remains limited. Hydroxyurea is the reference treatment for severe forms, but data on its use in Guinean patients are scarce. Our aim was to evaluate the clinical and biological results associated with hydroxyurea use in patients with homozygous sickle cell disease (SS) followed at the two university hospitals of Conakry. We conducted a cross-sectional, descriptive and analytical study over six months (1 October 2025 to 31 March 2026) in the haematology departments of the Donka and Ignace Deen University Hospitals. In total, 210 SS patients were consecutively included and divided into two groups: 102 patients (48.6
Anemia is characterized by a reduction in red blood cells, and hereditary forms are associated with underlying genetic factors. We investigated a Chinese family in which the proband and his daughter had anemia, using next-generation sequencing (NGS) and whole-exome sequencing (WES) to characterize germline and somatic variants. A heterozygous germline STAT5B c.1591G > A (p.Val531Met) variant of uncertain significance (VUS) was identified across three generations; anemia occurred only in the proband and his daughter, who also had distinct low clonal burden somatic STAT3 variants. The proband was diagnosed with T-cell large granular lymphocytic leukemia (T-LGLL) with erythroid hypoplasia, whereas his daughter had progressive erythroid hypoplasia but did not meet diagnostic criteria for T-LGLL. Both patients were administered sirolimus for suspected immune-mediated erythroid suppression and achieved hematologic improvement. These findings highlight how advances in NGS and WES can improve the detection of clinically relevant variants in families with anemia, supporting earlier risk-reducing interventions and more personalized therapeutic strategies for affected individuals and at-risk relatives.
Venous thromboembolism (VTE) is a recognized complication of acute leukemia, yet its national prevalence, temporal trends, and associations with inpatient outcomes remain poorly characterized. We aimed to provide a contemporary, nationally representative analysis of VTE burden and outcomes among hospitalized adults with acute leukemia. We conducted a retrospective analysis of the National Inpatient Sample (NIS, 2016–2022). Adult hospitalizations with a principal diagnosis of acute leukemia were identified using ICD-10-CM codes. VTE was the primary exposure. The primary outcome was any blood product transfusion. Transfusion was selected as the primary outcome because acute leukemia is characterized by a complex balance between thrombosis, thrombocytopenia, bleeding risk, and supportive transfusion requirements, making transfusion use a clinically relevant marker of this competing thrombohemorrhagic burden; secondary outcomes included in-hospital mortality, length of stay (LOS), and inflation-adjusted hospital charges. Multivariable regression models accounted for the complex NIS survey design. Temporal trends were assessed using predictive margins. Propensity-score weighted (PSW) sensitivity analyses using ATT weights evaluated the robustness of primary findings. Among 191,640 weighted hospitalizations, 8,880 (4.6
To investigate the effects of Prevotella copri (P. copri) on iron overload and chronic inflammation in β-thalassemia (β-Thal) mice, and to elucidate its underlying molecular mechanisms. 1. Fecal samples from wild-type (WT) and β-Thal mice were subjected to 16S rRNA sequencing to analyze differences in intestinal microbiota composition. 2. Given that P. copri acts as a dominant pro‑inflammatory bacterium in β‑Thal mice, four experimental groups were established: WT, WT+P. copri, β‑Thal, and β‑Thal+P. copri. Following intragastric gavage transplantation of P. copri, the following detections were performed: serum levels of tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), interleukin-6 (IL-6), interleukin-10 (IL-10), erythropoietin (EPO), serum ferritin (SF), and ferroportin (FPN) were quantified using enzyme-linked immunosorbent assay (ELISA) kits; hematopoietic function was evaluated via routine blood test and reticulocyte (Ret) measurement; mRNA and protein expression levels of glycoprotein 130 (Gp130), Janus kinase 1 (JAK1), phosphorylated Janus kinase 1 (p-JAK1), signal transducer and activator of transcription 3 (STAT3), and phosphorylated signal transducer and activator of transcription 3 (p-STAT3) were determined by quantitative real-time reverse transcription polymerase chain reaction (qPCR) and Western blot; colonic tissue morphology was observed via hematoxylin-eosin (HE) staining; and iron deposition in the liver and spleen was assessed using Prussian blue staining. Compared with the β-Thal group, the β-Thal+P. copri group exhibited elevated levels of pro-inflammatory factors (TNF-α, IL-1β, IL-6), decreased IL-10, increased SF and reduced FPN (p < 0.05); hemoglobin (Hb) was decreased, while EPO and Ret were increased (p < 0.05); the expression levels of GP130, p-JAK1/JAK1 and p-STAT3/STAT3 were upregulated; colonic mucosal damage accompanied by inflammatory cell infiltration, as well as markedly aggravated iron granule deposition in the liver and spleen were observed. P. copri exacerbates iron overload by triggering inflammatory responses and upregulating hepcidin in β-Thal mice, and this effect may be attributed to P. copri-mediated elevation of IL-6 and subsequent activation of the JAK/STAT signaling pathway. P. copri may further aggravate ineffective erythropoiesis and erythrocyte injury in β-Thal mice.
