Loss-of-Function Variants in as Modifying Factors in Beta-Thalassemia.

It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such as sickle cell disease and thalassemia. Here, we give an overview of the literature concerning a recently described association in carriers of Loss-of-Function variants with a beta-thalassemia-like phenotype including the characteristic elevated levels of HbA. That acts as modifier in beta-thalassemia carriers became evident from three reported cases in whom combined heterozygosity of and gene variants was observed to resemble a mild beta-thalassemia intermedia phenotype.

The hemoglobinopathies, molecular disease mechanisms and diagnostics.

Hemoglobinopathies are the most common monogenic disorders in the world with an ever increasing global disease burden each year. As most hemoglobinopathies show recessive inheritance carriers are usually clinically silent. Programmes for preconception and antenatal carrier screening, with the option of prenatal diagnosis are considered beneficial in many endemic countries.

Predictive role of fluctuating biochemical parameters for mortality in hemodialysis patients.

Introduction: High inflammation parameters like C-reactive protein and low albumin levels are considered as risk factors in CKD stage 5 patients. Due to dynamic changes in these parameters, there is evidence of an association between their variation and mortality in hemodialysis patients.

Methods: We retrospectively analyzed 153 patients on chronic hemodialysis.