Secondary osteoporosis is a common clinical problem faced by bone specialists, with a
higher frequency in men than in women. One of several causes of secondary osteoporosis is …

Sickle cell disease is a hereditary multiorgan disease that is considered rare in the EU. In
2017, the Rare Diseases Plan was implemented within the EU and 24 European Reference …

GCH1 gene provides directions for the synthesis of GTP cyclohydrolase 1 which regulates
the formation of Tetrahydrobiopterin (BH4). BH4 is a crucial cofactor for essential …

Sickle cell Anemia (SCA) is a widespread disease that causes hemolysis of blood cells,
anemia, painful episodes, organ damage, and in some cases death. Early diagnosis of …

Xanthine oxidase (XO) catalyzes the catabolism of hypoxanthine to xanthine and xanthine to
uric acid, generating oxidants as a byproduct. Importantly, XO activity is elevated in …

Nitric oxide (NO), a vasodilator contributes to the vaso-occlusive crisis associated with the
sickle cell disease (SCD). Vascular nitric oxide helps in vasodilation, controlled platelet …

Rare monogenic disorders are a group of single-gene-mutated diseases that have a low
incidence rate (less than 0.5‰) and eventually lead to patient disability and even death. Due …

Objective: Chronic hemolysis is a hallmark of sickle cell disease (SCD) and a driver of
vasculopathy; however, the mechanisms contributing to hemolysis remain incompletely …

Introduction: The mutation of the beta-globin gene that causes sickle cell disease (SCD)
results in pleiotropic effects, such as hemolysis and vaso-occlusive crisis that can induce …

Background: Patients with sickle cell disease (SCD) are considered at higher risk of severe
COVID-19 infection. However, morbidity and mortality rates are variable among countries …