The effectiveness of deferoxamine (DFO), deferiprone (DFP), or deferasirox (DFX) in
thalassemia major was assessed. Outcomes were reported as means±SD, mean differences …

It is evident that different non invasive methodologies have been implemented for the
detection of organ specific iron burden in patients with thalassemia major. Among these MR …

The aim of this study is to update the incidence and the distribution of the globin gene
defects causing β-thalassemia and abnormal hemoglobins in Sicily. The data derived from a …

Background Celomic fluid can be considered as an ultra-filtrate of maternal serum,
containing a high protein concentration, urea, and many other molecules. It is an important …

Objective Celocentesis is an invasive technique that can provide prenatal diagnosis of
single‐gene disorders, from as early as 7 weeks' gestation. The objective of this study was to …

Cockayne's syndrome (CS) is a rare autosomal recessive multisystem disease characterised
by early severe progression of symptoms. This study reports the feasibility of earlier prenatal …

Background Real‐life data on the use of R2 MRI for the assessment of liver iron
concentration (LIC) remain limited. Methods We conducted a cross‐sectional analysis on …

We report a new hemoglobin (Hb) variant, Hb Marineo [β70 (E14) Ala→ Val], found in three
generations of a family from West Sicily. The mutation is due to a GCC→ GTC substitution at …

Purpose Nearly 1183 different molecular defects of the globin genes leading to hemoglobin
variants have been identified (http://globin. bx. psu. edu) over the past decades. The …

Background: Turner syndrome is a rare genetic condition in which a female is partly or
completely missing an X chromosome. Signs and symptoms vary among those affected. In …