Thalassemia Reports, Volume 3, Issue 11

The congenital dyserythropoietic anemias, first described in 1966 and classified into four distinct types in 1968, are still very rare. However, many cases were described in recent years, mainly in European Countries. The detection of mutations of th...

Molecular biology techniques are routinely used nowadays to diagnose and evaluate antiviral treatment of patients with chronic hepatitis B (HBV) and hepatitis C virus (HCV) infections. Current tools at our disposal include tests that quantify the amo...

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Sickle Cell Disease is a rare condition in many regions of Europe and general clinicians responsible for local services to patients with SCD may have relatively little experience and knowledge of the condition [...]

New challenges and priorities are given in the EU Health programme 2007–2013 [...]

Since its introduction in the 1960s, external quality assessment has developed to become an essential component of the quality management system of the diagnostic laboratory. External quality assessment provides a long term, retrospective view of lab...

The plasma membrane of the erythrocyte accounts for all of its antigenic, transport, and mechanical characteristics, particularly its ability to undergo large passive deformations during repeated passage through the narrow capillaries of the microvas...

The red blood cell possess an active metabolic machinery that provides the cell with energy to pump ions against electrochemical gradients, to maintain its shape, to keep hemoglobin iron in the reduced (ferrous) form, and to maintain enzyme and hemog...

The European Patients’ Forum is a non-governmental, non-profit organisation set up in 2003 and based in Brussels. EPF is an umbrella body with currently 54 members - who are national coalitions of patients’ organisations, and disease-specific patient...

The beta-thalassaemias are very important genetic disorders of haemoglobin synthesis and are amongst the commonest monogenic disorders. In view of the severity of beta-thalassaemia major, a number of screening programmes have been developed aimed at...

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This essay proposes seven pre-requisites for the creation of effective programmes of care and support for patients living with the consequences of chronic genetic diseases. It then goes on to discuss the role of patient organisations and other stakeh...

ß thalassaemia major is one of the most severe forms of anaemia [...]

The role of HbF inducers in ameliorating the pathophysiology and severity associated with hemoglobinopathies like sickle cell disease and thalassemia is well demonstrated. So many studies have focused on explain the pathways that involved in the re-a...

In the pathophysiology of β-thalassemia, globin chain imbalance plays a central role in predicting red blood cell (RBC) life span and disease severity. Strategies to improve globin chain imbalance are therefore a legitimate target in the management o...

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Even though severe thalassemia is a preventable disease, over 100,000 new cases are born yearly, particularly in the Middle East and South-East Asia. Most of these children may not reach adulthood because long-term appropriate supportive care is eith...

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Hematology is a comprehensive discipline covering all oncological and non-oncological aspects of diseases of the blood or related organs. Hematological researchers have been pivotal in the progress which has been made in molecular diagnostics, target...

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Iron overload due to increased intestinal iron absorption remains a concern in patients with non-transfusion-dependent thalassemia (NTDT). A dynamic regulation between ineffective erythropiesis and iron metabolism in these disorders has been recently...

Thalassemia is a disease with many challenging aspects [...]

Abnormal iron accumulation in human tissues and oxidative damage are emerging issues in the medical field (1,2) [...]

Advances in iron metabolism have allowed a novel classification of iron disorders and to identify previously unknown diseases. These disorders include genetic iron overload (hemochromatosis) and inherited iron-related anemias, in some cases accompani...

Recent research addressed the main role of hepcidin in the regulation of iron metabolism. However, while this mechanism could be relevant in causing iron load in Thalassemia Intermedia and Sickle-Cell Anemia, its role in Thalassemia Major (TM) is mar...

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Rare anemias encompass a large and markedly heterogeneous group of nearly 90 different conditions [...]

Disorders of haemoglobin synthesis are the commonest monogenetic disorders worldwide [...]

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Thalassemia intermedia is a genetically diverse group of diseases that is the result of an imbalance in the production of the alpha and beta chains with ensuing chronic hemolysis, ineffective erythropoiesis, and iron overload.Resulting complications...

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The inherited hemoglobin disorders not only cause suffering and unhappiness to the patients but they also absorb a large part of resources and human effort in several countries which harbor the deleterious genes [...]

This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 3.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credit...

This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 3.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credit...

This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 3.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credit...

Diabetes is a significant complication of b-thalassaemia major. The aetiology includes iron overload causing b-cell destruction, autoimmunity, insulin resistance secondary to liver disease and development of type 1 or 2 diabetes. There are specific i...

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Bone disease represents a prominent cause of morbidity in patients with thalassaemia and other haemoglobin disorders. The delay in sexual maturation, the presence of diabetes and hypothyroidism, the parathyroid gland dysfunction, the haemolytic anaem...

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