A5009338104- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Blood groups and transfusion
- Pharmacological Effects and Toxicity Studies
- Erythrocyte Function and Pathophysiology
- Hepatitis B Virus Studies
- Neonatal Health and Biochemistry
- Erythropoietin and Anemia Treatment
- Prenatal Screening and Diagnostics
- Hepatitis C virus research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Liver Disease Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- Trace Elements in Health
- Parvovirus B19 Infection Studies
- Hematological disorders and diagnostics
- CRISPR and Genetic Engineering
- Folate and B Vitamins Research
- Neurological diseases and metabolism
- Oral and gingival health research
- Clinical Laboratory Practices and Quality Control
- Tuberculosis Research and Epidemiology
- Systemic Sclerosis and Related Diseases
- Chronic Lymphocytic Leukemia Research
- Bone and Joint Diseases
Ospedale Microcitemico
2016-2025
University of Cagliari
2014-2025
Azienda Ospedaliera G. Brotzu
2011-2024
Istituto Nazionale di Fisica Nucleare, Sezione di Cagliari
2022
Clinica Mediterranea
2013
Arcispedale Sant'Anna
2005
Prince of Wales Hospital
2005
University of Ferrara
2005
Background and Objectives Patients with β-thalassemia, like those genetic hemochromatosis, develop iron overload due to increased absorption, their burden is further exacerbated by transfusion therapy. Hepcidin, a hepatic hormone, regulates systemic homeostasis inhibiting the absorption of from diet recycling macrophages. In turn, hepcidin release loading inhibited erythropoietic activity. Hepcidin deficiency cause in most forms hereditary hemochromatosis. We sought determine hepcidin’s role...
Patients with transfusion-dependent β-thalassemia need regular red-cell transfusions. Luspatercept, a recombinant fusion protein that binds to select transforming growth factor β superfamily ligands, may enhance erythroid maturation and reduce the transfusion burden (the total number of units transfused) in such patients.
Not available.
Background Recent advances in the management of thalassemia have significantly improved life expectancy and quality patients with this hemoglobinopathy, a consequent increase their reproductive potential desire to children.Design Methods We describe methods conception delivery, as well course outcome pregnancy including transfusions, iron overload chelation 46 women major (58 pregnancies) 11 intermedia (17 pregnancies). Conception was achieved after gonadotrophin-induced ovulation 33...
We reviewed cardiac T2* assessments from 77 thalassemia major patients between the ages of 2.5 and 18 years to study optimal timing iron screening by magnetic resonance imaging. No patient under 9.5 age showed detectable in contrast 36% 15-18 old, corresponding an odds-ratio 1.28 (28%) per year. All with had received at least 35 grams transfusional iron. Liver ferritin failed predict loading. Initiation imaging assessment should be determined according burden rather than indices overload....
Non-transferrin-bound iron and its labile (redox active) plasma component are thought to be potentially toxic forms of originally identified in the serum patients with overload. We compared ten worldwide leading assays (6 for non-transferrin-bound 4 iron) as part an international inter-laboratory study. Serum samples from 60 four different iron-overload disorders various treatment phases were coded sent duplicate analysis five laboratories worldwide. Some provided multiple assays. Overall,...
β-thalassemia, a hereditary blood disorder caused by defective synthesis of hemoglobin β globin chains, leads to ineffective erythropoiesis and chronic anemia that may require transfusions. Sotatercept (ACE-011) acts as ligand trap inhibit negative regulators late-stage in the transforming growth factor superfamily, correcting erythropoiesis. In this phase II, open-label, dose-finding study, 16 patients with transfusion-dependent -thalassemia 30 non-transfusion-dependent β-thalassemia were...
Once-daily deferasirox dispersible tablets (DT) have a well-defined safety and efficacy profile and, compared with parenteral deferoxamine, provide greater patient adherence, satisfaction, quality of life. However, barriers still exist to optimal including gastrointestinal tolerability palatability, leading development new film-coated tablet (FCT) formulation that can be swallowed light meal, without the need disperse into suspension prior consumption. The randomized, open-label, phase II...
Allogeneic hematopoietic stem cell transplantation (HSCT) in thalassemia remains a challenge. We reported single-centre case-control study of large cohort 516 children and adult patients treated with HSCT or blood transfusion support iron chelation therapy; 258 (median age 12, range 1-45) underwent sibling (67%) unrelated (33%) HSCT; 97 were adults (age ≥ 16 years). The median follow-up after was 11 years (range 1-30). conditioning regimen busulfan (80.6%) treosulfan-based (19.4%). A age-sex...
Clinical and hematologic characteristics of beta(β)-thalassemia are determined by several factors resulting in a wide spectrum severity. Phenotype modulators are: HBB mutations, HBA defects fetal hemoglobin production (HBG2:g.−158C>T polymorphism, HBS1L-MYB intergenic region the BCL11A). We characterized 54 genetic variants at these five loci robustly associated with amelioration beta-thalassemia phenotype, to build predictive score severity using representative cohort 890 β-thalassemic...
Background: Hereditary hemoglobin disorders are the most common globally distributed monogenic red cell diseases. The rights of women with thalassemia or sickle disease (SCD) to motherhood need be protected by creating a roadmap guide her, and her family network, along all phases event. In fact, pregnancy in these vulnerable patients requires special attention guidelines from counseling stage (giving information about requirement risks posed their respect general population) pre-conception...
Aim: Sickle cell disease (SCD) is a debilitating monogenic disorder of red blood cells, characterized by acute pain episodes during vaso-occlusive crises (VOCs). Here, we developed and validated medical app, SCD-MED-ALERT, for home management in patients with SCD. Methods: The SCD-MED-ALERT app multilingual standalone application iOS Android. It was proposed to young adult SCD (n = 47) attending comprehensive sickle centers within the Società Italiana Talassemie ed Emoglobinopatie (SITE)...
Summary Liver iron concentration ( LIC ) assessment by magnetic resonance imaging MRI remains the gold standard to diagnose overload and guide chelation therapy in patients with non‐transfusion‐dependent thalassaemia NTDT ). However, limited access technology expertise worldwide makes it practical also use serum ferritin assessments. The THALASSA (assessment of Exjade ® THALASS emiA patients) study assessed efficacy safety deferasirox iron‐overloaded provided a large data set allow...
Progression of liver fibrosis in patients with hemoglobinopathies is strongly related to the severity iron overload and presence chronic hepatitis C virus (HCV) infection. Effective chelation therapy HCV infection eradication may prevent complications. The European Association for Study Liver guidelines recommend interferon-free regimens treatment hemoglobinopathies. However, data regarding use direct-acting antiviral drugs (DAAs) this patient population are few. This observational study...