2014 December - 26 articles
HBV and HCV infections are among the most important global health problems; both represent also the leading cause of cirrhosis and HCC worldwide. HBV treatment cannot be considered cure but effective viral suppression can be achieved and remains the...
The long term consequences of iron toxicity are mostly reversible with effective iron chelation therapy. Recommendations for use of chelation therapy in transfusion dependent thalassaemia (TDT), sickle cell disease (SCD) and non transfusion dependent...
Iron overload is a matter of an extreme clinical importance, in the overall management of Thalassaemia. Magnetic Resonance Imaging (MRI), has evolved in a novel tool for iron quantification during the last decade and it is considered as a validated,...
The availability of oral iron chelators and new non-invasive methods for early detection and treatment of iron overload, have significantly improved the life expectancy and quality of life of patients with β thalassemia major. However, monotherapy is...
The thalassemias are a group of inherited disorders of hemoglobin synthesis characterized by various degrees of defective production of the α- or β-globin chains of adult hemoglobin A. Non-transfusion- dependent thalassemia (NTDT) includes a group of...
Today a patient born with thalassaemia major can expect to have a near normal life expectancy and remain free of complications of iron overload with good monitoring and excellent transfusion and chelation regimes. Unfortunately patients still develop...
Adherence to treatment is a great concern for patients who need long-life treatment. Thalassaemia is an inherited disease for whose treatment team-working is of a considerable importance. To logically face the problem of poor compliance patients, all...
The inherited hemoglobin disorders are a challenging topic for many reasons; they are caused by a variety of interesting molecular mechanisms, have a complicated pathophysiology, they constitute a multifaceted medical problem with pain and misery for...
The economic crisis, which struck in Europe since 2008, has raised concerns about the health of the less privileged, vulnerable and poor people of the continent - the ordinary people of Europe. There is currently sufficient evidence for the negative...
The Patient is a Problem or the Patient has a Problem [...]
Liver complications in haemoglobinopathies (thalassaemia and sickle cell disease) are due to several factors, dominated (beside chronic viral infections, not considered here) by chronic iron overload, biliary obstruction and venous thrombosis. Wherea...
Endocrine abnormalities are amongst the most common complications of β-thalassaemia major (TM). This is an overview of endocrinopathies of adult patients with β-thalassaemia major, excluding osteoporosis and fertility issues. This review will focus o...
Iron overload in haemoglobinopathies and rare anaemias may develop from increased iron absorption secondary to hepcidin suppression, and/or from repeated blood transfusions. While the accumulation of body iron load from blood transfusion is inevitabl...
Bisphosphonates (BP) are commonly used in individuals with thalassaemia to stabilise bone remodelling. However, in recent years, evidence has emerged that bisphosphonate related osteonecrosis of the jaw (BONJ) may occur. Cases of BONJ have recently b...
Sickle cell disease (SCD) is an inherited, lifelong condition. The sickle mutation consists a single nucleotide change (GAT->GTT) in the sixth codon of exon 1 of the β-globin gene coding for the β-globin polypeptide of hemoglobin (Hb) (a2β2). This...
Progressive improvements in the health and survival of patients with thalassaemia and sickle cell disease have increased the reproductive prospects of affected individuals. However, pregnancy in these disorders is associated with significant maternal...
β-thalassemias and sickle cell anemia (SCA) are the most common monogenic diseases worldwide for which curative treatments remain a desired goal. Allogeneic hematopoietic stem cell transplantation (allo-HCT), - the only curative treatment currently a...
The β-thalassaemias are a group of severe and rare anaemias with monogenic inheritance, a complex systemic phenotype and several treatment-related complications, caused by more than 300 mutations of the β-globin gene. Novel therapeutic protocols, mos...
The Community added value of Centres of Expertise (CoE) and European Reference Networks (ERN) is particularly high for rare diseases (RD) due to the rarity of these conditions, which implies both a small number of patients and scarcity of expertise w...
The creation of a telemedicine, tele-expertise platform opens a new challenge within the European Network for Rare and Congenital Anaemias (ENERCA; www.enerca.org). This is a cornerstone in the field of rare anaemias, in which national expertise is u...
ENERCA (the European Network for Rare and Congenital Anemias) is a European Commission funded project since 2002 [...]
The concept of quality of life (QoL) encompasses a broad spectrum of meaning that is variously influenced by individual, natural and psychological conditions [...]
The title of this speech is an important challenge for me, for a patient I mean, to face because it’s not easy to state today if we are really strong enough to assert our rights for a quality healthcare. At first sight, and in an optimistic vision, w...
Providing optimal care for patients with hemoglobinopathies is common goal for all the health professionals working on the field. The medical community has adopted best practices guidelines to provide similar therapeutic plans. The pre-requisites for...
SHOT (Serious Hazards of Transfusion scheme) is the UK’s National confidential haemovigilance system, and was set up in 1996. It is an independent, confidential, professionally led haemovigilance scheme. Initially the reporting was voluntary but now...
While most complications are related to haemoglobinopathies and their treatment, it is also possible to observe substantial differences in comorbidities’ onset and seriousness which depend also to the different HPs genotypes. These differences should...
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