Efficacy and safety of interferon-based therapy in the treatment of adult thalassemic patients with chronic hepatitis C: a 12 years audit.

Background: HCV infection and transfusional iron overload in Thalassemic patients may result in liver disease. HCV treatment in Thalassemia has raised safety concerns.

Aim: Estimate effectiveness and tolerability of interferon-based therapy in HCV-infected Thalassemic patients.

Liver disease in adult transfusion-dependent beta-thalassaemic patients: investigating the role of iron overload and chronic HCV infection.

Background: Iron overload and hepatitis-C virus (HCV) infection, have been implicated in the evolution of liver disease, in patients with transfusion-dependent beta-thalassaemia major (BTM). However, the impact of these factors in late stages of liver disease in adults with BTM, has not been extensively studied.

Aims: To investigate serum indices of iron overload, HCV infection and liver disease, in a cohort of 211 adult Greek patients with BTM, in relation with the findings from liver biopsies.

Incidence, risk factors, and outcome of portal vein thrombosis after laparoscopic-assisted splenectomy in β-thalassemia patients: a prospective exploratory study.

Background: Portal vein system thrombosis (PVT) is an infrequent but potentially serious complication after laparoscopic splenectomy. Patients with β-thalassemia are at higher risk as they have splenomegaly and hypercoagulability.

Subjects And Methods: Forty-eight β-thalassemia patients who underwent hand-assisted laparoscopic splenectomy or laparoscopic splenectomy were studied prospectively with pre- and postoperative Doppler ultrasonography or computed tomography scanning.

A national registry of haemoglobinopathies in Greece: deducted demographics, trends in mortality and affected births.

Haemoglobinopathies are the most common hereditary disorders in Greece. Although there is a successful national prevention program, established 35 years ago, there is lack of an official registry and collection of epidemiological data for haemoglobinopathies. This paper reports the results of the first National Registry for Haemoglobinopathies in Greece (NRHG), recently organized by the Greek Society of Haematology.

Bone health evaluation of children and adolescents with homozygous β-thalassemia: implications for practice.

Objective: Bone tissue is adversely affected in patients with homozygous β-thalassemia. The aim of this study was to find warning signs of bone loss in young patients with β-thalassemia and allow prompt therapeutic interventions.

Methods: Thirty-eight patients were studied, 20 boys and 18 girls, aged 5 to 18 years (median = 14.

A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait.

Objectives: To determine the molecular basis in a Greek child suspected of having HbH disease and β-thalassemia trait.

Methods:   Standard hematology, Hb electrophoresis, and HPLC. Multiplex ligation-dependent probe amplification (MLPA), direct sequencing, and breakpoint characterization by NimbleGen fine-tiling array analysis.

The new self-inactivating lentiviral vector for thalassemia gene therapy combining two HPFH activating elements corrects human thalassemic hematopoietic stem cells.

To address how low titer, variable expression, and gene silencing affect gene therapy vectors for hemoglobinopathies, in a previous study we successfully used the HPFH (hereditary persistence of fetal hemoglobin)-2 enhancer in a series of oncoretroviral vectors. On the basis of these data, we generated a novel insulated self-inactivating (SIN) lentiviral vector, termed GGHI, carrying the (A)γ-globin gene with the -117 HPFH point mutation and the HPFH-2 enhancer and exhibiting a pancellular pattern of (A)γ-globin gene expression in MEL-585 clones. To assess the eventual clinical feasibility of this vector, GGHI was tested on CD34(+) hematopoietic stem cells from nonmobilized peripheral blood or bone marrow from 20 patients with β-thalassemia.

Effect of deferiprone or deferoxamine on right ventricular function in thalassemia major patients with myocardial iron overload.

Background: Thalassaemia major (TM) patients need regular blood transfusions that lead to accumulation of iron and death from heart failure. Deferiprone has been reported to be superior to deferoxamine for the removal of cardiac iron and improvement in left ventricular (LV) function but little is known of their relative effects on the right ventricle (RV), which is being increasingly recognised as an important prognostic factor in cardiomyopathy. Therefore data from a prospective randomised controlled trial (RCT) comparing these chelators was retrospectively analysed to assess the RV responses to these drugs.

Iron overload, cardiac and other factors affecting pregnancy in thalassemia major.

The reproductive thalassemic population is growing older and doctors confront the challenge of the thalassemic pregnancy. Pregnancy is characterized by dynamic multiple system changes, resulting in increased basal oxygen consumption, changes in energy substrate use by different organs and increased susceptibility to oxidative stress, while homozygous transfusion-dependent beta-thalassemia (beta-thal) patients manifest cardiac, hepatic, endocrine, and metabolic disorders attributable to chronic anoxia and iron overload. Pregnant thalassemic patients require significantly larger amount of total blood transfusion during pregnancy and iron overload increases the oxidative stress of pregnancy, while the risk for cardiovascular events, in a high cardiac output state, is augmented and chelation treatment is generally avoided due to the potential teratogenicity.

Cardiac involvement in sickle beta-thalassemia.

Cardiovascular involvement is a leading cause of mortality and morbidity in patients with inherited hemoglobinopathies, but it has not been adequately assessed in sickle beta-thalassemia. We evaluated 115 sickle beta-thalassemia patients, aged 34 +/- 14 years, along with 50 healthy controls, by resting echocardiography. Patients with systolic left ventricular (LV) dysfunction or severe pulmonary hypertension (PHT) also underwent left and right cardiac catheterization and cardiac magnetic resonance imaging (CMR).

Plasma B-type natriuretic peptide concentration in beta-thalassaemia patients.

Background: Plasma B-type natriuretic peptide (BNP) concentration has significant diagnostic accuracy and prognostic value in various forms of heart disease. Whether BNP is also useful in the evaluation and management of thalassaemia heart disease remains to be determined.

Methods And Results: Eighty three thalassaemia major patients; 8 with acutely decompensated heart failure (New York Heart Association [NYHA] class III or IV, group A), 25 with NYHA class II symptoms and impaired systolic left ventricular function (ejection fraction<55% or fractional shortening<30%, group B) and 50 with normal systolic function (group C), as well as 50 healthy controls, were studied.

Predictive echo-Doppler indices of left ventricular impairment in B-thalassemic patients.

Early detection of cardiac-function impairment by echo-Doppler indices can assist in preventing further cardiac damage by modifying disease progression and treatment. We analyzed our thalassemia major patients database with 10 years cardiac follow-up. Included patients were under constant therapy and should have an initial echo-Doppler study with normal Shortening Fraction (SF > 30%) and reexamination within the last year.

Cardiac magnetic resonance imaging R2* assessments and analysis of historical parameters in patients with transfusion-dependent thalassemia.

Recent advances in magnetic resonance imaging (MRI) techniques allow the assessment of iron overload in tissues 1 especially the heart, 2 in transfusion-dependent thalassemia patients. The R2* value (1/T2*) recorded in the intraventricular septum of the heart indirectly measures the degree of cardiac iron load. Applying this new technology we looked at a number of historical and biochemical parameters in order to determine their relationship to cardiac iron overload and the effect of cardiac iron on functional and structural changes of the heart in transfusion-dependent thalassemics.

Correlation of echocardiography parameters with cardiac magnetic resonance imaging in transfusion-dependent thalassaemia major.

Background And Objective: Heart iron load (cardiac Fe) can be indirectly quantified by cardiac magnetic resonance (CMR) T2*. CMR accessibility is limited, whereas echocardiography (Echo) is relatively inexpensive and readily available. The objective was to find Echo parameters that may be useful for predicting cardiac Fe.

Hand-assisted laparoscopic surgery with a Pfannenstiel incision in beta-thalassemia patients: initial experience.

Introduction: beta-Thalassemia patients have splenomegaly significant enough to require splenectomy; furthermore, these patients also often require concurrent procedures.

Methods: Between January and October 2005, seven patients with beta-thalassemia underwent hand-assisted laparoscopic splenectomy with cholecystectomy, appendectomy, and liver biopsy with the hand-port device introduced through a Pfannenstiel incision.

Results: The median age of the patients was 28 years, and the median spleen length was 23 cm.

Endothelial function and arterial stiffness in sickle-thalassemia patients.

Background: Homozygous sickle-cell anemia and beta-thalassemia are characterized by impaired endothelial function, while data on arterial stiffness have hitherto been conflicting. We sought to investigate aortic elastic properties and endothelial function in sickle-thalassemia, which combines molecular and clinical features of the above conditions.

Methods And Results: Forty-seven sickle-thalassemia patients, younger than 45 years, with preserved left ventricular (LV) function and no history of smoking, systemic or pulmonary hypertension, diabetes mellitus, dyslipidemia or thyroid disease, along with 40 healthy controls were studied.

Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis.

Most deaths in beta-thalassemia major result from cardiac complications due to iron overload. Differential effects on myocardial siderosis may exist between different chelators. A randomized controlled trial was performed in 61 patients previously maintained on subcutaneous deferoxamine.

Elevated plasma chemokine CCL18/PARC in beta-thalassemia.

Plasma CCL18/PARC, a member of the CC chemokine family, has been found to be several ten-fold increased in symptomatic Gaucher type I patients. Elevated plasma chitotriosidase levels are a well-known abnormality in Gaucher patients, however, its diagnostic use is limited by the frequent genetic deficiency in the protein. Like the situation in Gaucher disease, lipids accumulate in macrophages of patients suffering from beta-thalassemia, and, in both conditions, increased chitotriosidase levels occur.

A comparison of magnetic resonance imaging and cardiac biopsy in the evaluation of heart iron overload in patients with beta-thalassemia major.

Objectives: To apply magnetic resonance imaging (MRI) for the assessment of myocardial iron deposition in patients with beta-thalassemia and compare the results with cardiac biopsy data.

Background: Myocardial iron accumulation is the main cause for cardiac complications in beta-thalassemia.

Methods: Twenty-five consecutive thalassemic patients were studied using a 0.

Thalassemia heart disease: a comparative evaluation of thalassemia major and thalassemia intermedia.

Background: Heart disease represents the main determinant of survival in beta-thalassemia, but its particular features in the two clinical forms of the disease, thalassemia major (TM) and thalassemia intermedia (TI), are not completely clarified.

Methods: We compared clinical and echocardiographic global parameters in 131 TM patients who received regular chelation transfusions and were highly compliant with treatment (mean age, 28 +/- 6 years [+/- SD]), and 74 age-matched, TI patients who did not receive chelation transfusions.

Results: Congestive heart failure was encountered in five patients with TM (3.

Echocardiographic and electrocardiographic prognostic factors of heart failure in young patients with beta-thalassemia major: a 10-year (1995--2004) follow-up.

Despite intense iron-chelation therapy, the life expectancy of patients with beta-thalassemia major (beta-TM) is still limited by the occurrence of heart failure. In the present study, we sought to evaluate the prognostic significance of several clinical factors on the outcome of heart failure or arrhythmias in patients with beta-TM. The study group consisted of 131 consecutive young patients with beta-TM (71 men aged 21+/-4 years, 60 women aged 22+/-5 years) who were initially examined during 1995.

Cardiac status in well-treated patients with thalassemia major.

Objective: To assess cardiac status in a large group of patients with thalassemia major who had been treated in a standard way since their early infancy with intensive transfusions and deferoxamine chelation therapy and who had good compliance with this regimen.

Methods And Results: We assessed clinically and echocardiographically 202 thalassemia major patients aged 27.3 +/- 6.

Distribution of serum lipids and lipoproteins in patients with beta thalassaemia major; an epidemiological study in young adults from Greece.

Background: Beta-thalassaemia major (b-TM) has been defined as a combination of chronic hemolytic anemia, iron storage disease and myocarditis, and it has been associated with premature death especially due to heart failure. To the best of our knowledge the status of blood lipids in these patients has rarely been investigated. Thus, we assessed the levels of lipids and lipoproteins in a sample of cardiovascular disease free adult men and women with b-TM.

Unusual phenotypic observations associated with a rare HbH disease genotype (- -Med/alphaTSaudialpha): implications for clinical management.

A single patient with a rare Haemoglobin H (HbH) disease genotype (- -Med/alphaTSaudialpha) was observed to have exceptionally high levels of HbH (> 60%) and paradoxically high total haemoglobin levels. Studies of haematological parameters, blood biochemistry and oxygen transport properties revealed a severe functional anaemia, associated with marked erythropoietic stimulation and a markedly raised cardiac output. This rare case illustrates the complexity of interactions that may be associated with the clinical course of HbH disease, highlighting that haematological parameters alone may lead to spurious evaluation of clinical status.

Staphylococcus aureus abscess of the spleen in a beta-thalassemia patient.

Splenic abscesses are rare among abdominal abscesses. We present a case of splenic abscess due to Staphylococcus aureus in a beta-thalassemia major patient. Such a complication may not be coincidental, as beta-thalassemia major patients have an increased susceptibility to infection, which is attributable to a number of immune abnormalities.