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The inherited genetic disorder β-thalassemia affects the hematopoietic system and is caused by the low production or absence of adult hemoglobin (HbA). Ineffective erythropoiesis is the hallmark of β-thalassemia pathophysiology and is characterized by an erythropoietin-driven substantial increase in erythroblast proliferation, coupled with an increase in late-stage precursor apoptosis, which results in low levels of circulating mature red blood cells (RBCs) and chronic anemia. Mitochondrial dysfunction commonly occurs in these cells because of the increased demand for energy production and the need to manage abnormal hemoglobin chain synthesis. Moreover, several studies have highlighted the importance of gradual mitochondrial clearance for mature erythroid cell production. This review offers an overview of the mitochondrial role in essential cellular processes, particularly those crucial for maintaining RBC health and function. Additionally, recent evidence regarding the contribution of mitochondrial dysfunction to the pathophysiology and severity of β-thalassemia is discussed, along with updated insights into indirect mitochondria-targeting treatments, which present potential pharmacological targets.

Sickle hepatopathy is a severe and not rare complication of sickle cell disease (SCD), showing mainly a cholestatic pattern. So far, no effective approaches to prevent or treat this condition have been recognized. We conducted a single-center observational study in 68 adult sickle cell patients, encompassing 17 with sickle cell anemia (SCA), 38 with sickle cell thalassemia (HbS/β-Thal), and 13 with HbSC disease. The aim of our study was to assess liver damage in the three main forms of SCD, through the evaluation of clinical, laboratory, and imaging findings. In our population, the role of hepatotropic viruses, high BMI, and alcohol consumption in liver damage was ruled out. SCA and HbS/β-Thal patients with lower Hb (p < 0.001), higher HbS (p < 0.001), and frequent vaso-occlusive crises showed functional (GGT values: SCA and HbS/β-Thal vs HbSC p = 0.047 and p = 0.009, respectively) and structural liver abnormalities, defined by abdominal ultrasound and vibration-controlled transient elastography (liver stiffness values: SCA and HbS/β-Thal vs HbSC p 0.022 and p 0.19, respectively), more severe than HbSC patients. Through univariate and multivariate analyses, male sex, SCA genotype, lower HbF, frequent transfusions, increased GGT values, and abnormal liver ultrasound and stiffness were identified as potentially early markers of sickle hepatopathy.

Anemia is a risk factor related to morbidity and mortality in patients with chronic heart failure (HF). Less is known about its influence in patients in an early stage of HF. Our aim is to investigate the prognostic role of anemia in patients initially hospitalized for acute HF. We reviewed all consecutive patients admitted within a 18-month period with a main diagnosis of acute HF. We collected demographic, clinical and treatment data. Anemia is defined as Hemoglobin <12/13 g/dL upon admission in female/male patients, respectively. 719 patients were included (55.5% female), with a mean age of 78.7 ± 9 years. Anemia was present in 59.6% of patients upon admission, with a mean Hb of 10.4 ± 1.4 g/dL. Multivariate analysis confirms the relationship between the presence of anemia and older age, a previous diagnostic history of diabetes, and the presence of chronic kidney disease. In-hospital mortality is similar for anemic and non-anemic patients (6.8 vs 3.8%, p  = n.s.) However, the difference is significant when one-year mortality is evaluated (31% in anemic patients vs 19% in non-anemic patients, p  < 0.001). Cox regression analysis confirms the association between anemia and higher risk of one-year mortality, as well as with older age and a higher Charlson comorbidity index. Our study confirms that the presence of anemia is an independent factor for mid-term (1-year) mortality even in patients experiencing a first admission due to acute HF.

Chronic obstructive pulmonary disease (COPD) is a frequent comorbidity in heart failure (HF) patients. Whether a prior COPD diagnosis influences patients’ prognosis in early stages of HF is unknown. We reviewed patients > 50 years old admitted because of a first episode of acute HF. We divided the sample into two groups according to the existence of a prior diagnosis of COPD. We used regression analysis to identify the baseline patients’ characteristics associated with the presence of COPD, and Cox mortality analysis to identify baseline and discharge data related to higher risk of a combined outcome of 1-year all-cause readmission or mortality. Finally, 985 patients were included in the analysis; 212 (21.5%) with a prior diagnosis of COPD. Baseline characteristics were similar between both groups except for a much higher prevalence of male gender, higher number of chronic therapies, and lower prevalence of atrial fibrillation among COPD patients. The combined primary outcome is significantly more prevalent in COPD patients (68.4 vs. 59.8%, p = 0.022). Cox analysis identified this prior diagnosis of COPD (HR 1.282, 95% CI 1.063–1.547; p = 0.001) as an independent risk factor for 1-year readmission and mortality, together with older age, higher admission creatinine and potassium values, and a higher number of chronic therapies. Our study confirms that in a “real-life” cohort of elderly patients experiencing a first episode of acute HF, the presence of a prior diagnosis of COPD is common, and confers a higher risk of adverse outcomes (death or readmission) during the year following discharge.

Anemia and hyperferritinemia are frequent findings at diagnosis of Gaucher disease (GD). Macrophage-independent dyserythropoiesis and abnormal iron metabolism have been shown. We evaluated hematological and iron status at diagnosis (T0) and the effect of enzyme replacement therapy (ERT) on erythropoiesis and iron utilization over 5-year follow-up in type 1 GD patients and in an ex vivo model of erythropoiesis from CD34 + peripheral blood cells. At T0, 41% of patients had anemia and 51% hyperferritinemia. Hemoglobin increased from 12.6 (T0) to 13.9 g/dL (T6), GFD15, a marker of ineffective erythropoiesis, decreased from 5401 to 710 pg/ml, and serum ferritin decreased from 614 to 140 mcg/L (p < 0.001). In parallel, transferrin saturation (TSAT) increased. Hepcidin, although in the normal range, decreased from T0 to T6. Ex vivo studies showed that ERT restores the erythroid cells derived from CD34 + impaired ability to differentiate. During ERT, an increase in TFRC expression, consistent with the ability of erythroid precursors to uptake iron, and a reduction in HAMP and concomitant increase in SLC40A1 were observed. This is the largest study with a longitudinal follow-up evaluating erythropoiesis and iron metabolism, combining clinical and ex vivo data in GD. Iron dysregulation likely contributes to anemia, and ERT, by improving iron distribution, improves erythropoiesis.

Anemia is a common finding in elderly individuals. Several studies have shown a strong relationship between anemia, morbidity and mortality, suggesting anemia as a significant independent predictor of adverse outcome in elderly hospitalized patients. The pathophisiology of anemia in the elderly is not yet completely understood. Several mechanisms are involved. We investigated the prevalence of anemia in a cohort of 193 elderly patients admitted to the Internal Medicine Ward of Ca'Granda Policlinico Hospital along 6 months, and its relationship to comorbidities and to the length of hospitalization. Anemia was classified according to the WHO criteria. The majority of patients (48 %) had a mildmoderate, normocytic anemia; severe anemia was found in 8 out of 92 anemic patients. In a subgroup of patients erythropoietin was tested and resulted statistically higher if compared to non-anemic controls ( p  = 0.003). Considering the most common cause of anemia, nutritional deficiency, chronic renal disease and anemia of chronic disease were found respectively in 36, 15 and 25 % of cases. Unexplained anemia was diagnosed in 24 % of patients, according to the literature. Anemia was independently associated with increased length of hospital stay. Our study confirmed a high prevalence of anemia in elderly patients, and its association with a higher number of comorbidities and a longer stay. A correct clinical approach to anemia in elderly hospitalized patients is essential, considering its negative impact on patients' quality of life, and its social burden in term of healthcare needs and costs.

The AABB Choosing Wisely Campaign recommends “don’t transfuse for iron deficiency without hemodynamic instability”. However, the management of iron deficiency anemia (IDA) in the emergency department (ED) is heterogeneous and patients are often over-transfused. Intravenous iron is effective in correcting anemia and new formulations, including ferric carboxymaltose (FCM), allow the administration of high doses with low immunogenicity. The aim of this retrospective study was to analyze the management of hemodynamically stable patients aged 18–55 years with severe IDA (hemoglobin < 8 g/dL), who presented to the ED from January 2014 to July 2018. Patients who received FCM (FCM1) and those who did not receive FCM (FCM0) were compared. Efficacy and safety of FCM at follow-up were evaluated. Seventy-one subjects fulfilled the inclusion criteria (FCM0 n = 48; FCM1 n = 23). The mean Hb at admission was 6.6 g/dL. 40% in the FCM0 and 13% in FCM1 were transfused (p = 0.02). 21% of FCM0 patients were admitted to the ward, while all FCM1 were discharged (p = 0.02). Within 2 weeks, the Hb increase was 2.8 ± 1 g/dL in the FCM1 group. Sixteen FCM1 patients were evaluated at 52 ± 28 days (median 42, range 27–122): the average Hb increase was 5.3 ± 1.4 g/dL. In summary, we showed that FCM administration in the ED in hemodynamically stable patients was associated with fewer transfusions and hospital admissions compared to the FCM0 group; moreover, it succeeded in safely, effectively and rapidly increasing Hb levels after discharge from the ED. Further studies are needed to develop recommendations for IDA in the ED and to identify transfusion thresholds for non-hospitalized patients.

In the original publication, the given name and family name of the fifth author Dr Margherita Migone De Amicis were incorrectly published. The correct given name and family name should read as ‘Margherita’ and ‘Migone De Amicis’, respectively