Search results for " Sickle Cell"
showing 10 items of 10 documents
Efficacy of Rapamycin as Inducer of Hb F in Primary Erythroid Cultures from Sickle Cell Disease and β-Thalassemia Patients.
2015
Phenotypic improvement of hemoglobinopathies such as sickle cell disease and β-thalassemia (β-thal) has been shown in patients with high levels of Hb F. Among the drugs proposed to increase Hb F production, hydroxyurea (HU) is currently the only one proven to improve the clinical course of these diseases. However, Hb F increase and patient's response are highly variable, indicating that new pharmacological agents could be useful for patients not responding to HU or showing a reduction of response during long-term therapy. In this study we evaluated the efficacy of rapamycin, a lypophilic macrolide used for the prevention of acute rejection in renal transplant recipients, as an inducer of Hb…
Deferiprone versus Deferoxamine in Sickle Cell Disease: Results from a 5-year long-term Italian multi-center randomized clinical trial
2014
Blood transfusion and iron chelation currently represent a supportive therapy to manage anemia, vasculopathy and vaso-occlusion crises in Sickle-Cell-Disease. Here we describe the first 5-year long-term randomized clinical trial comparing Deferiprone versus Deferoxamine in patients with Sickle-Cell-Disease. The results of this study show that Deferiprone has the same effectiveness as Deferoxamine in decreasing body iron burden, measured as repeated measurements of serum ferritin concentrations on the same patient over 5-years and analyzed according to the linear mixed-effects model (LMM) (p=0.822). Both chelators are able to decrease, significantly, serum ferritin concentrations, during 5-y…
Chelation treatment in sickle-cell-anaemia: much ado about nothing?
2011
Summary Blood transfusions may prevent and treat serious complications related to sickle-cell disease (SCD) when performed according to specific guidelines. However, blood transfusion requirements in SCD inevitably lead to increased body iron burden. An adequate chelation treatment may prevent complications and reduce morbidity and mortality. This review evaluates the effectiveness, safety and costs of chelation treatment. The included trials were examined according to the recommendations of the American College of Cardiology (ACC) and the American Heart Association (AHA). Overall, 14 trials and a total of 502 patients with SCD were included in this review. Deferoxamine alone (s.c. or i.v.)…
Fatal complication of sickle cell anemia in an immigrant patient rescued from the mediterranean sea
2020
The aim of this case report is to share with the forensic science community the experience of a rare complication of sickle cell anemia: acute chest syndrome. In October 2016, at the port of the city of Trapani (Sicily, Italy), the landing of an ONG "Médecins Sans Frontières" ship took place with 548 non-EU citizens and a corpse on board. The man, in the hours before his death, complained of severe chest pain and respiratory difficulties, and, despite of the therapeutic aids and resuscitation maneuvers, lastly died. The Public Prosecutor ordered that autopsy be executed on the corpse of the young Ghanaian, and it was to be supplemented by histological, toxicological, genetic investigations,…
MR imaging of the brain: findings in asymptomatic patients with thalassemia intermedia and sickle cell-thalassemia disease.
1999
The purpose of this study was to evaluate the spectrum of MR findings of the brain in asymptomatic patients affected with thalassemia intermedia or sickle cell-thalassemia disease to prevent brain damage by identifying patients at risk for stroke so that transfusional or pharmacologic treatment could be implemented.Forty-one asymptomatic patients who were younger than 50 years and were affected by minor hemoglobinopathies underwent MR imaging of the brain. Ischemic lesions were classified as small, medium, or large and as single or multifocal. Atrophic changes were graded subjectively as mild, moderate, or severe. A grade of brain damage was assigned to every patient. The frequency and seve…
A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Pla…
2019
The reference methods used for sickle cell disease (SCD) screening usually include two analytical steps: a first tier for differentiating haemoglobin S (HbS) heterozygotes, HbS homozygotes and β-thalassemia from other samples, and a confirmatory second tier. Here, we evaluated a first-tier approach based on a fully automated matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) platform with automated sample processing, a laboratory information management system and NeoSickle® software for automatic data interpretation. A total of 6701 samples (with high proportions of phenotypes homozygous (FS) or heterozygous (FAS) for the inherited genes for sickle h…
Time trends, sociodemographic and health factors associated with discharge and length of stay of hospitalised patients with sickle cell disease in Gh…
2021
ObjectivePatients with sickle cell disease (SCD) are prone to multiple episodes resulting in frequent hospital visits. We determined the time trends, sociodemographic and health factors associated with length of stay (LoS) for patients with SCD in Ghana.Design, participants, settingWe retrospectively analysed SCD hospitalisation records of 22 680 patients from a nationwide database of the Ghana Health Service from 2012 to 2017.Outcome measuresFactors associated with LoS were estimated using Cox regression, while the cumulative incidence of being discharged alive was estimated with in-hospital death as a competing risk.ResultsPatients admitted for SCD over 6 years constituted 22 680 (0.8%) o…
Erythrocyte aggregation in homozygous sickle cell disease
2014
Amparo Vayaa,∗, Susana Colladoa, Rafael Alisb,c and Maria-Angeles Dasid aHemorheology and Haemostasis Unit, Service of Clinical Pathology, La Fe University Hospital, Valencia, Spain bResearch Universitary Institute “Dr. Vina Giner”, Molecular and Mitochondrial Medicine, Catholic University of Valencia, “San Vicente Martir”, Valencia, Spain cFaculty of Medicine, Catholic University of Valencia “San Vicente Martir”, Valencia, Spain dPediatry Service, La Fe University Hospital, Valencia, Spain
Quantification of HBG mRNA in primary erythroid cultures: prediction of the response to hydroxyurea in sickle cell and beta-thalassemia
2013
Background and Objective Increased expression of fetal hemoglobin (HbF) may ameliorate the clinical course of hemoglobinopathies like sickle cell disease (SCD) and β-thalassemia. Hydroxyurea (HU) can stimulate HbF production in these diseases but the response is highly variable indicating the utility of developing an in vitro test to predict the patient's response to HU. We assessed whether the HbF response of patients with SCD and thalassemia intermedia (TI) to HU correlates with HBG (both γ-globin genes) expression in their cultured erythroid progenitors following exposure to HU. Patients and Methods We exposed primary erythroid cultures from peripheral blood mononuclear cells from 30 pat…
Thalassemia (Microkarterocytosis) and Drepanocytosis their Forms and Genetics
1952
SummaryThalassemia, that I propose to call Microkarterocytosis, can be divided into three forms to be distinguished under the names of minima (healthy carriers), minor (Rietti and Greppi's disease), major (Cooley disease).It can be inferred that Thalassemia is a mutation developped in a mediterranean superior paleolitic race that showed also the character high cheek bones.In my researches of 1941-42 I for first showed that thalassemia is a dominant hereditary character with homozigotic letal effect (heterozigotes the healthy carriers, homozigotes Cooley' patients).Heterozigotes throug an increased expression of the morbid gene develop Rietti and Greppi disease, as I inferred in 1949.The res…