Thalassemia Reports, Volume 1, Issue 12

On behalf of the Turkish Federation of Thalassaemia (TFT) [...]

During the last two decades there has been a rapid and significant increase of knowledge and success in the control of Hb disorders [...]

Sickle Cell Disease(SCD) is one of the most common hemoglobinopathies in the world which causes stroke. The management of stroke depends on the manifestations and the age of the patient. Especially in childhood, anatomic and physiological abnormaliti...

Clinical advances in the treatment of thalassaemia major (TM) patients have helped to increase substantially the life expectancy of patients. The TM patients today represent the first generation of adult thalassemics. As patients enter puberty, they...

I would like to tell you a main message: to fight against this disease is always useful. Imagine you are a little kid and want to play with your friends, you want to run with them play ball with them but you couldn’t. You have to stay at home or sit...

Iron overload due to multiple transfusions affects the endocrine glands especially the anterior pituitary, the pancreas, the thyroid and the parathyroids. This leads to a variety of endocrinopathies and growth failure. Delayed puberty, hypogonadism,...

Many thalassemia subjects both transfused Major (TM) and nontransfused Intermedia (TI) suffer from longstanding bone disease, reduced or low bone mass (osteopenia or osteoporosis), fractures and bone pain. Unexpected musculoskeletal disease occurs de...

Pain in thalassemia proves to be an emergent issue even if it is not possible to correlate it definitely to bone disease, but we strongly believe that a multidisciplinary approach, may be as decisive in this case as it was in the struggle against tha...

Transfusion dependant patients are at risk of acquiring transfusiontransmitted viral infections including Hepatitis B virus (HBV) and Hepatitis C (HCV). These infections can lead to cirrhosis and hepatic cancer. Standard treatment, although with impr...

Sickle cell pain is a complex but frequently experienced symptom. Acute painful events in children can be managed effectively in the community with appropriate support and education. If hospital management is required, rapid access to a consistent, r...

Pulmonary hypertension (PH) is one of the main cardiovascular complications in haemoglobinopathies and is considerably implicated in patients’ morbidity and mortality. In thalassemia intermedia, PH is found in about 60% of traditionally managed patie...

Some studies demonstrate that a large proportion of copy drugs contain lower levels of active substances and higher impurity levels than reference drugs. The number of copy drugs failing to meet internationally recognised quality criteria consequence...

For the public two things are not easy to understand about drugs [...]

Anaemia causes lower oxygen transport to tissues, interfering with normal physical development and may interfere with exercise and sports in thalassemia and Sickle-Cell-Disease (SCD) l. Moreover, in SCD, the abnormal haemoglobin alters the erythrocyt...

The following recommendations should be taken into account during the evaluation and elucidation of the complex hemoglobinopathies: (a) in complex hemoglobinopathies performing DNA studies on all family members might be essential; (b) complex gene-ge...

Among the factors associated with thalassemic heart disease, endocrine disturbance is also a contributing factor. We present a retrospective, cross sectional study, which aims to establish the prevalence of cardiac complications in thalassaemia major...

The use of Magnetic resonance imaging (MRI) to estimate tissue iron was initiated nearly three decades ago but has only become a practical reality in the last ten years. MRI is most often used to estimate hepatic and cardiac iron in patients with tha...

Bone marrow transplantation (BMT) is the only possible curative treatment for β-thalassemia major. The largest experience occurred in Pesaro, Italy, where the BMT was applied after a standard risk assessment. The patients were divided into 3 risk cla...

For the thalassaemia syndromes the Thalassaemia International Federation, the international patients’ organization has been struggling since its inception in 1987 to facilitate access to treatment for all thalassaemia patients across the globe. Ever...

As the life expectancy of β-thalassemia patients has markedly improved over the last few decades, several manifestations are increasingly recognized. The presence of a high incidence of thromboembolic events, mainly in thalassemia intermedia patients...

Thalassemia intermedia (TI) is a heterogeneous disease, in terms of both clinical manifestations and underlying molecular defects. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from early childhood. In contrast wi...

α-thalassaemia is an autosomal recessive disorder, in which there is impaired production of the a-globin chains of haemoglobin. It is associated with microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a letha...

This study aims to describe the creation process of standard procedures to make possible multicentre studies related to emotional aspects of thalassaemic patients, their families and caregivers; and the pilot phase of the routine implementation. The...

It is necessary to remember that today patients have different options of chelation treatment, as desferrioxamine, deferiprone and deferasirox are available. However, a patient has to be compliant with treatments. They have always to remember that to...

Deferoxamine (DFO) is reference standard therapy for transfusional iron overload since the 1980s. Although it is a highly effective iron chelator, the compliance problem to subcutaneous administration of DFO remains as the major problem. The oral che...

Thalassemia major (TM) is the most common deadly genetic disorder, a major cause of chronic non-infectious morbidity and financial burden in many low and middle-income regions. In these settings few children reach adulthood because proper long-term s...

Heart failure always represented and still remains the leading cause of mortality in β (β)-thalassemia, despite the therapeutic advances and the considerable amelioration of prognosis accomplished over the last decades. High cardiac output due to chr...

Fetal globin is endogenous, normally integrated in hematopoietic stem cells in all humans, and available for reactivation. Inducing expression of fetal globin (γ-globin) gene expression to 60–70% of α globin synthesis produces β-thalassemia trait glo...

The clinical manifestations of β-thalassemia are extremely heterogeneous, ranging from severe transfusion-dependent anemia, to the mild non transfusion dependent thalassemia intermedia and to the asymptomatic carrier state. The remarkable phenotypic...

Preimplantation Genetic Diagnosis (PGD) is currently an alternative for couples with high risk of pregnancies with genetic anomalies; it offers the possibility of avoiding the need to terminate affected pregnancies, since it allows the selection of u...

Thalassemia and abnormal haemoglobins are a serious health problem in Turkey. Very important steps for toward preventing thalassemia have been taken in Turkey by Ministry of Health (MOH), Turkish National Haemoglobinopathy Council (TNHC) and Thalasse...

Thalasseamia is one of the common genetic disorders. A genetic defect causes reduction of the globin chains leading to chronic haemolytic anaemia from birth. The mainstay of treatment is blood transfusion to maintain adequate levels of the haemoglobi...

Large scale prevention programs for Thalassemia major or Sickle cell disease have already been set up in several places with high frequency of the deleterious genes. The Greek health authorities realized the magnitude of the problem and allowed the c...