Thalassemia Reports, Volume 4, Issue 2

The acetylated fetal hemoglobin (AcHbF) derives from an enzyme-mediated post-translational modification occurring on the N-terminal glycine residues of γ-chains. At present, no established data are available on reference intervals for AcHbF in newbor...

Although iron is an essential element for life, an excessive amount may become extremely toxic both for its ability to generate reactive oxygen species, and for the lack in humans of regulatory mechanisms for iron excretion. Chelation therapy has bee...

Over the past twenty years there has been a growing interest in the orally active iron chelators, deferiprone and deferasirox, both have been extensively studied. The ability of these compounds to mobilize iron from the heart and endocrine tissue has...

In patients with β-thalassemia and sickle cell syndromes there is an important secondary iron overload due to regular blood transfusions and increased duodenal iron absorption. As in genetic hemochromatosis, also the secondary iron storage leads to t...

Iron can be deposited in all internal organs, leading to different types of functional abnormalities. However, myocardial iron overload that contributes to heart failure remains one of the main causes of death in thalassemia major. Using magnetic res...

In this work we approach the relationship between redox state and iron overload by noninvasive instrumental techniques. Intracardiac, liver iron and liver fibrosis have been monitored in transfusion-dependent thalassemia patients by magnetic resonanc...

On May 2012 the city of Ferrara and the surrounding region were hit by several earthquakes. We had the chance to observe the behavior of one thalassemic heart during the shocks, because of a 24-h electrocardiogram recording had been put in place a fe...

Quite a few papers have been written on the significance of elevated hemoglobin (Hb) A₂ as a parameter for the diagnosis of β-thalassemia trait, on the cutoff values to be used in diagnostics and on the significance and effects of factors reducing or...

Interpreting hemoglobin disorders by high performance liquid chromatography can sometimes deceptive, especially with borderline HbA₂ values. It is often problematic, especially in antenatal cases if the partner is a known thalassemia trait. We tested...

Aim of this study was to analyze γ A gene repeat polymorphism for the analysis of haplotypes of hemoglobin (Hb) variants such as Hb S, Hb D-Punjab, Hb O-Arab. Sickle cell cases had mainly Benin and Arab/Indian haplotype. We found three different hapl...

Considerable attention has been recently devoted to mechanisms involved in the perinatal hemoglobin switch, as it was long ago established that the survival of fetal hemoglobin (HbF) production in significant amount can reduce the severity of the cli...

In this report we’ve compared the plasma protein profiles of 4 individuals in a family. Father and the younger son both are hemoglobin (Hb) Eβ-thalassemic {Cod 26 (G-A)/IVS 1- 5 (G-C)}, but the father never requires transfusion, whereas the younger s...

Improving global health remains the target of many international, regional and national official health bodies struggling to coordinate limited economic and human resources in order to ensure equal access of all to quality healthcare [...]

Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthes...

The aims of this study are: (i) to enquire whether informing healthy hemoglobinopathy carriers about their condition is a welcome initiative in The Netherlands; (ii) to study whether using information letters and thorough explanation is associated wi...

The β-thalassemias and sickle cell disorders pose a major health burden in the large and diverse Indian population. Education programs for awareness generation are being done by National Institutions, non-governmental organizations and Thalassemia So...

β-thalassemias are among the most common inherited monogenic disorders worldwide due to mutations in the β-globin gene that reduce or abolish the production of the β-globin chain resulting in transfusion-dependent chronic anemia. Currently, the only...

The accurate assessment of provirus copy number per cell (VCN/cell) is a fundamental issue in transgenesis as well as in gene therapy studies based on stably integrated vectors. To this end, real-time quantitative polymerase chain reaction (qPCR) is...

Preimplantation genetic diagnosis (PGD) for HLA typing is steadily becoming an option for at risk couples with thalassemic children, requiring HLA matched bone marrow transplantation treatment. The paper presents the world’s largest PGD experience of...

Relapsed/refractory AML patients have a poor prognosis, with CR rates of 1–30%, unless allogeneic hematopoietic stem cell transplantation (HSCT) is an available option [...]

Many international organizations are struggling today to coordinate limited economic and human resources in support of governments’ efforts to advance public health around the world. The United Nations and the World Health Organization, along with ot...

Prof. Renzo Galanello, a worldwide expert in thalassemic syndromes, died in Cagliari after a few months of a severe illness on 13 May 2013, at the age of 65 [...]

In less than one year Antonio Cao (Cagliari, 4 May 1929–Cagliari, 21 June 2012) and Renzo Galanello (Parrano, 21 July 1948–Cagliari, 13 May 2013), two amongst the greatest scientists in the fields of Pediatrics, Hematology and Thalassemia, have passe...