December 2014 - 26 articles
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...
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